Peds Shelf Notes

Cardiovascular Dermatology Development Endocrinology Fluids Genetics & Other Congenital

Stuf GI /Nutrition G /rinary !ematology In"ectious Disease Neonatology Neurology Oncology
Ophthalmology Orthopedics #sych #ulmonology $enal $heumatology %dolescence &iscellaneous
Cardiovascular
PDA' ductus usually closes (ithin 10-15h and almost always by 2 days o" )irth
AV canal endocardial cushion AV se!tal defect' contiguous atrial* ventricular septal
de"ect+
, lar"e systolic !ul#onary $ow #ur#ur - %%S& diastolic #ur#ur heard. can have
wide s!lit S2
Cyanotic 'eart Defects
Note: if somethings happening around 10-15h of life and it looks cardiac, give prostaglandin to
open PDA
! %lso do hy!ero(ia test' i" #aO/ on 0112 O/ 3 41* pro)a)ly a mi5ing cardiac lesion 6)ig
shunt7
Ductal-inde!endent' 8runcus* 8%#9$* D:transposition o" great arteries 6all mi5 on their o(n7
Ductal de!endent'
, For pulmonary )lood ;o(' 8etFallot* critical pulm stenosis* tricuspid atresia* #%:I9S
, For systemic )lood ;o(' hypoplastic le"t heart* interrupted aortic arch* critical coarc*
critical aortic stenosis* tricuspid atresia (ith transposition o" the great arteries+
Name #hysiology Diagnosis 8reatment
)rans!osition
of the *reat
Arteries
Aorta+ !ul#onary
artery switched+
<hen #D% closes* t(o
parallel circuits "ormed
(ithout a/v mi5ing :
trou)le= >ess s5 i" 9SD
present too+
!ealthy:loo?ing ?id stops
"eeding* loo?s dus?y* )reathes
"ast* long cap re@ll A 04h 6#D%
closes7+ %oud+ sin"le second
heart sound+ B,"" on a
strin"- on CC$ 6narro(
mediastinum' aorta* pulmonary
artery superimposed7
Prosta"landin
6open #D%7* then
create ASD
6atrial
septostomy7 via
cath "or palliation.
de@nitive surgery
in @rst / (?s
)etralo"y of
.allot
1/0 Pul#onary
stenosis
2/0 1verridin" aorta
2/0 VSD
3/0 4V'0
%/( //D00 6DiGeorge7
See boot sha!ed heart 6$9!7*
decr+ pulmonary vascularity+
Classically (ith tet s!ells
6sudden incr+ in $:> shunting*
cyanosis a"ter activity* child
sDuats to compress peripheral
vessels / improve pulm )lood
;o(+
Surgery
Pul#onary
valve
Stenosed pulmonary
valve E out;o(
Cyanosis* e5ercise intolerance+
5%S& systolic e6ection
Valvulo!lasty
via cardiac cath+
1
stenosis obstruction+ #ur#ur that radiates to )ac?.
systolic clic?+ ,7*8 4-a(is dev
(ith more severe 6$9!7+ %/(
"lyco"en stora"e d9s+
Noonan syndro#e
)ricus!id
atresia
No outlet )et(een $%*
$9 : need fora#en
ovale+ ASD+ VSD "or
mi5ing+ >eads to 4V
hy!o!lasia+
Cyanosis+ Decreased pulm
vasculature on CC$+
8he only cyanotic heart disease
(ith %V' on EFG* e5am* echo
6others have )igger $9=7
Prosta"landin*
then surgical
correction
6modi@ed G8*
then hemiFontan*
then Fontan7
,bstein
ano#aly
4e"ur"itant tricus!id
valve displaced
to(ards botto# of 4
heart 6small $9
results7+ O)structs
ventricular out;o(
6large anterior lea;et
Cyanosis+ <ide* @5ed split S/*
tricuspid regurg )lo(ing
murmur A >>SG* e5treme
cardiomegaly on CC$
%/( lithiu# during pregnancy*
also a/( :P:
Prosta"landin*
then surgical
correction
)APV48 )otal
ano#alous
!ul#onary
venous
return
%nomalous !ul#onary
veins enter systemic
veins 6o5ygenated
)lood shunted )ac? to
venous side=7 &ust
have ASDP.1 "or
mi5ing
;Snow#an- shadow a)ove
heart 6outlines o" pulm vv
draining to innominate vein &
persistent le"t superior vena
cava7+ $9 heave* @5ed split S/*
cardiomegaly* $9!* cyanosis
Sur"ery
6emergent i"
o)struction*
(ithin 0 mo o" li"e
i" not7
'y!o!lastic
left heart
syndro#e
nderdeveloped le"t
side o" heart+ Need
ASDPDA8 ASD to get
O/:rich )lood "rom >%
to veins* (here it can
go to )ody via PDA
Cardio#e"aly+ increased
!ul#onary vascularity+ See
poor $ (ave progression & $9!
on EFG+
Prosta"landin+
Palliation
6Nor(ood* Glenn*
Fontan staged
repair7 /
trans!lant
Pul#onary
atresia with
intact
ventric0
se!tu# <PA-
=VS/
Pul#onary valve
s#all or shut o>* (ith
no VSD E no #i(in"?
Cyanosis (ithin hours* (orse
(ith closure o" #D%
Decreased pulmonary
vascularity
Prosta"landin
Sur"ery
)runcus
Arteriosis
Sin"le arterial vessel
"rom )ase o" heart
gives rise to coronary*
systemic* pulmonary
arteries* al(ays (ith
VSD
%/< Di*eor"e+ Nonspeci@c
murmur* minimal cyanosis at
)irth* )ut C'. in (ee?s 6pulm
vasc resistance "alls* lungs suc?
up )lood* systemic )lood ;o(
"alls7+ loud e6ection clic@+
sin"le S2 (ith )ounding
pulses+
Sur"ery 6close
9SD* separate
pulmonary
arteries* conduit
"rom $9 to
pulmonary
arteries
Cardiac sur"eries
2
A Norwood procedure' connect subclavian to !ul#onary artery 6modi@ed )layloc?:
taussig shunt7 to get )lood to lungs+ #ro)lem' e5pose lungs to high systemic pressures+ In
hypoplastic >+ heart syndrome* the $9 is essentially pumping systemic circulation 6#% to
aorta via maintained #D%7* so you need another (ay to get )lood to lungs : hence this
procedure+
A &i-directional *lenn <'e#i-.ontan/8 SVC connected to !ul#onary circulation+ >ungs
no( getting much lo(er venous pressures 6)etter7 )ut I9C still dumping deo5ygenated
)lood into $%:H$9:H#%:H#D%:H%orta 6mi5es=7
A .ontan procedure' connect =VC to !ul#onary circulation 6completing the Fontan7 : no(
all deo5ygenated )lood 6S9C and I9C7 goes to lungs* and $9 is providing pump action "or
systemic circulation 6li?e the >9 usually does7
&eni"n #ur#urs8
Diastolic E pathologic+ For systolic'
&ore li?ely innocent &ore li?ely congenital heart disease
&urmur intensity grade / or less* heard at le"t
sternal )order
Normal S/
No audi)le clic?s
Normal pulses
No other a)normalities
&urmur intensity grade I or higher
!arsh Duality
#ansystolic duration
>oudest at upper le"t sternal )order
%)normal S/
%)sent or diminished "emoral pulses
Other a)normalities
Peri!heral Pul#onary Stenosis 6E pulmonary )ranch stenosis7+
A Classic #ur#ur descri!tion' "rade 1-2B hi"h !itched blowin" #id-systolic
e6ection #ur#ur+ best heard C %5S&+ radiatin" to a(illa and throu"h to bac@0
A ,!ide#iolo"y' responsi)le "or maJority o" innocent murmurs in term in"ants 6especially
a"ter /Kh* (hen most #D% have closed* and #D% is no longer e5planation7+
A Physiolo"y' 8he murmur may )e due to the relative hypoplasia at )irth o" the )ranch
pulmonary arteries compared to the main pulmonary artery 6(hich is large )ecause it
"eeds the #D% and systemic circulation in utero7 and their sharp angle o" origin* (hich
causes tur)ulence and the murmur+ Disa!!ears by 2-2 #onths of a"e as )ranches
gro(+
A Pul#onary .low #ur#ur is a similar murmur* also )enign* heard in older ?ids 6L M to
adolescence7 N systolic eJection murmur )est heard at >SG* "rom tur)ulence o" ;o( (here
main pulmonary artery connects to $ ventricle 6across pulmonary valve7+
StillDs Eur#ur 6E vi)ratory murmur7'
A Classic #ur#ur descri!tion' low !itched+ vibratory+ #usical <;stru##ed bass
Fddle-/+ "rade 1-2B systolic e6ection #ur#urG are usually )est heard )et(een the
%%S& and a!e(0
8hey typically decrease in intensity or resolve with a Valsalva #aneuver* (hich can
)e induced in in"ants )y gentle pressure on the a)domen+ StillOs murmurs tend to vary
with heart rate+ )ecoming more evident as the heart rate slo(s+
,!ide#iolo"y' can present in in"ancy. also o"ten )et(een I:M years old+
3
Physiolo"y' Some(hat controversial. some thing itPs "rom vi)ration o" &9 or chordae.
others thin? itPs Just "rom high:tur)ulence eJection "rom >9+
Venous 'u# ' beni"nG continuous soft hu##in" #ur#ur heard C nec@+ ri"ht u!!er
chest0
, !eard in I:M y/olds mostly+ From tur)ulent ;o( in Jugular venous / S9C systems+
Disappears (hen supine
Carotid &ruit 6I:Q yrs7' systolic e6ection #ur#ur )est heard at nec@
, tur)ulence (here )rachiocephalic vessels attach to the aorta
Possibly Patholo"ic Eur#urs8
VSD8 Classic #ur#ur descri!tion8 /:I/M lo(:pitched harsh holosystolic murmur )est A > mid:
to:lo(er sterna )order 6small 9SD7+ I" su)pulmonic* )est A >SG+ I" spontaneously closing*
holosystolic murmur shortens 6early systole only* then disappears7+
,!ide#iolo"y' /12 o" all children (ith C!D have an isolated 9SD+
Physiolo"y' &em)ranous* su)pulmonic* %9 canal* muscular de"ect+ In utero* $L> sided
systolic pressures. mostly insigni@cant+ > to $ shunt a"ter pulmonary resistance "alls*
ductus arteriosis closes+ O"ten present as murmur at K:01 days o" li"e 6#9$ needs to "all
enough to create gradient7
Severity depends on siRe+ Small E small > to $ shunt* no change in $ sided pressures+
&oderate E resistance to pressure* not to ;o( 6no $ side pressure increase* )ut more ;o(
E can overload > atrium* > ventricle )y increasing return7+ >arge essentially creates a
single pumping cham)er (ith t(o outlets. again can overload )y increasing return into >
heart. can S #9$ as (ell ::H eisen#en"er syndro#e (hen #9$ H S9$ 6$::H>7
:hat to doH
<or?up' EFG 6loo? "or >9!* > atrial enlargement7 -/: CC$ 6can sho( increased
vascular enlargement* cham)er enlargement7 N )oth only (ith @ndings in
moderate/large 9SD+
&oderate to large 9SDs p/( heart "ailure )y I:K (?s age+ $e"er to cardiology+ 412
can )e managed medically 6diuretics* %CEi* digo5in7* 412 (ill need surgery+
Small 9SDs usually remain asymptomatic+ Q42 (ill close (ithin @rst t(o (ee?s o"
li"e+ Schedule appt at I:K (?s 6(hen they (ould Bdeclare themselvesT7 & educate
a)out signs+ I" still asymptomatic at I:K (? chec?up* peds cards "ollo(up at U:01
(ee?s* then at 0/ months i" still gro(ing (ell+
ASD' .i(ed s!littin" of S2 6(ide on )oth inspiration and e5piration70
A No #ur#ur fro# $ow 6atrial ;o( doesnPt have high enough gradient7+
A Can have pulmonic systolic eJection murmur "rom increased $9 volume+
A No good evidence to close a small %SD / #FO N despite theoretical ris? parado5ical
em)olism+ Close large hemodynamically unsta)le ones+ &aJority o" small 63Mmm7
isolated secundum de"ects close )y / yrs+
PDA8 continuous+ #achine-li@e #ur#ur+ I/M or less* )est heard in % infraclavicular region+
Continuous )ecause aortic pressure is higher than pulmonary pressure throughout diastole
and systole. ma5 intensity around S/+ No chan"e with !osition0 &oderate / large can
4
)e symptomatic 6e5ercise intolerance7. even lead to $> shunt & eisen#en"erDs
syndrome+
Consult peds cards. generally close even small audi)le #D%s 6even those have ris?
endocarditis7 (ith indomethacin. controversial a)out silent #D%s+
Coarctation of the aorta' thin? 8urnerPs syndrome. ductal dependent. start !rosta"landins*
see diferential blood !ressures I !ulses* may reDuire surgery
Aortic stenosis' in ?ids* o"ten a/( bicus!id aortic valve (hich )ecomes stenotic+ harsh
systolic e6ection #ur#ur )est heard A 45S& (ith e6ection clic@ preceding it. may have
thrill* may radiate to carotids+ %V' on EFG+ I" critical* may )e ductal dependent :
!rosta"landin indicated+ Other(ise* try balloon valvulo!lasty
Pul#onic stenosis' i" critical* may force fora#en ovale o!en ::H $ to > shunt+ e6ection
clic@+ then harsh systolic e6ection #ur#ur A %5S& -/: thirll* $9 heave. enlarged #% on CC$*
4V' on ,7*+ &ay need prostaglandins+
4heu#atic heart disease' most o"ten acutely causes #itral re"ur"itation* later in li"e may
progress to #itral stenosis0 %ortic valve is V/+
7awasa@i disease' can cause !ericarditis+ #yocarditis+ coronary arteritis+ )ut coronary
aneurys#s are the most (orriesome thing 6most in subacute !hase+ days 00:/4* regress in
most patients* less ris@ i" as!irin used7+ 8hen use low dose as!irin until the aneuryisms
resolve+
,ndocarditis' .ever I new #ur#ur* may have nonspeci@c chest pain+ stro@es+ he#aturia
are the more common em)olic phenomena in ?ids 6$oth spots* splinter hemorrhages* petechiae*
Osler nodes* Wane(ay lesions less common in peds7
&ost commonly stre! viridans <al!ha-he#olytic stre!/ I sta!h aureus+
I" a complication o" cardiac surgery* also consider fun"i+ sta!h e!i+
*N4s more li?ely i" neonate+ i##unoco#!ro#ised+ =VD5
Ab( !!( )e"ore dental !rocedures i"' !rostetic valve+ !revious endocarditis+ C'D
thatPs unrepaired / have palliative shunt / conduit / prosthetic material* or heart
trans!lant !ts (ith cardiac valvular disease onl"=
C$#* ES$* <GC elevated+ Get an echo to loo? at valves+ Give B wee@s =V ab( directed
therapy+
Eyocarditis' mostly co(sac@ie &* alsocCo5sac?ie A* adenovirus+ echovirus+
.ever+ dys!nea+ fati"ue+ chest !ain 6"rom secondary pericarditis7+ loo?s li?e C'.
6cardiomegaly* edema* pulmonary edema / dyspnea* pallor* tachypnea / tachycardia7
,7*8 low volta"e+ S) de!ression+ )-wave inversion+
Echo' dilated ventricles* poorly "unctioning 6de!ressed C17
PC4 "or viruses* may need )iopsy+
Dilated cardio#yo!athy ' in ?ids* "rom recent #yocarditis 6BidiopathicT7* neuro#uscular
d9 6D&D7* or dru" to(icity 6e+g+ anthracyclines7* or can )e "amilial
Signs / s5 ' C'.* !ul#onary ede#a+
5
)reat li@e C'.8 diuretics+ $uid restriction+ vasodilators I inotro!es
'y!ertro!hic cardio#yo!athy' %ut dom (ith incomplete penetrance+ can present as sudden
death in youn" athlete stereotypically+
A thic@ened ventricular se!tu# ::H %V out$ow tract obstruction+ >eads to systolic
e6ection #ur#ur A %%S& a!e( (ith so"t holosystolic mitral regurg murmur* may have
>9 heave / thrill+ Eur#ur "ets softer with sJuattin"+ layin" down & louder (ith
strain Valsalva+ standin" u! 6more )lood in >9 means less o)struction7 : the opposite
o" aortic stenosis
A ,7*' see %V'+ left-a(is dev* may see signs o" strain / ischemia+ ,cho is diagnostic+
A 85' Ca-channel bloc@ers+ beta-bloc@ers+ Avoid co#!etitive s!orts 6K:M2 mortality
per year7+
Arrhyth#ias
&radyarrhyth#ias'
, Sinus bradycardia8 o"ten normal in young healthy athletic ?ids+ KB0 in older children*
K100 in neonates
, .irst de"ree heart bloc@ ' P4 L 200#s0
X %/( increased va"al tone+ #eds 6digo5in* )eta:)loc?ers7* in"ections 6viral
#yocarditis+ %y#e/* hypothermia* electrolyte pro)lems* C!D* rheumatic "ever+
, Second de"ree heart bloc@'
X Eobit9 = :enchebach8 Pro"ressive P4 !rolon"ation* then Y$S dropped+
Same etiologies as 0st degree heart )loc?+ >ess serious+
X Eobit9 ==' a)rupt "ailure o" %9 conduction : sudden dro!!ed M4S a"ter normal #+
Eore serious than &o)itR I or 0st degree heart )loc? 6can progress to total heart
)loc?7+
X .i(ed ratio' /'0* I'0* etc+ )loc?s+ From %9 node or !is inJury+ &ay progress to total
heart )loc?
, )hird de"ree heart bloc@' )otal A-V dissociation+
X Can )e 6unctional esca!e 6normal Y$S interval7* or ventricular esca!e 6slo(er*
(ide Y$S7+
X %/( open heart surgery* congenital heart mal"ormations* >yme disease*
cardiomyopathy+
, DonPt need to treat 0st degree or &o)itR 0+ For others* may need !ro!hylactic
!ace#a@er deFb+
)achyarrhyth#ias' 4ate L 250' thin? tachycardia* even in the little ones+
Classically* narrow-co#!le( are well toleratedG wide-co#!le( can )e an emergency+
, narrow' thin? S98s* :P:+ AVN4)+ A-$utter+ A-Fb
, For reentrant tachycardias' va"al nerve sti# 6carotid massage* ice* strain7 then =V
adenosine
, wide' V-tach V-Fb0 Emergency time=
X I" hemodynamically sta)le* can try a#iodarone or !rocaina#ide 6not together7 &
consult cards
X I" unsta)le* P,A al"orith#' i" pulseless* non-synchroni9ed cardioversion A
2N@"* CP4* AC%S+
6
:olf-Par@inson-:hite' see delta wave resting* representing accessory path(ay
Con"enital lon" M)8 thin? channelopathies+ can lead to )dP 6give E" to treat=7
, Nervell-%an"e-Nielsen' long Y8 - sensorineural hearin" loss
, 4o#ano-:ard8 no sensorneural hearing loss 6strictly cardiac. (orse7
'y!ertension in @ids' more li?ely secondary than ?ids* although !ri#ary essential is
increasing+ chec? "or !heo+ renal artery stenosis* neuroblasto#a* etc+
, Need 2( elevation L O5P adJusted "or age* se5* height+
, ma?e sure cuf covers Q42 o" upper lim)* right cuf side* ta?e multiple e5tremities i"
indicated
, Phar# thera!y
X youn"er @ids' diuretics* )eta )loc?ers* ca channel )loc?ers
X older @ids' can use %$G / %CEi in adolescents* adults7
X hy!ertensive crisis' su)lingual ni"edipine* I9 nicardipine* I9 nitroprusside*
la)etalol+ Can use hydrala9ine in neonates+ &onitor closely & avoid sudden drops
6cere)ral per"usion autoregulated to higher pressures. can stro?e out7+
Der#atolo"y
Ato!ic der#atitis <ec9e#a/ :
, =nfants 6)irth:/7 : present Z Imo (ith dry+ red+ scalin" chee@s 6e+g+ (inter time7* may
)e e5udative* #ithout perioral* paranasal involvement* s!arin" dia!er area+ very
!ruritic & inter"ering (ith sleep
, Childhood' in;ammation in $e(ural areas. perspiration ::H itching/)urning ::H scratching
::H irritation ::H etc+ See !a!ules that coalesce into !laJues. can see licheni@cation
(ith itching+
, 1lder @ids adults' pruritic* recurrent* $e(ural+ onset again around pu)erty* hand
dermatitis / perior)ital / anogenital+
, $uns (ith other atopic disorders 6allergic rhinitis* asthma7+
, <atch out "or bacterial su!erinfection+ di>use cutaneous 'SV 6punched:out red
um)ilicated vesicles7
, D5' la) studies not great. serum IgE may )e help"ul+
, 85' e#ollients+ anti!ruritics <to!ical corticosteroids or antihista#iens7* to control
in;ammation* avoid drying soaps* use lubricants 6e+g+ eucerin* vasaline7 a"ter )athing+
%void topical $uorinated corticosteriods on face+ "enetalia+ intertri"inous area
6can depigment / thin the s?in7
X 8acrolimus* pimecrolimus' nonsteroidal immunomodulators "or more re"ractory
cases
:is@ott-Aldrich' C:lin?ed recessive* recurrent infections+ thro#bocyto!enia+ ec9e#a
Psoriasis' erythe#atous !a!ules that coalesce ::H dry !laJues (ith shar! borders and
silvery scale
A $emoving scale ::H pinpoint )leeding 6Aus!it9 si"n7+ Can see sti!!lin"+ !ittin"+
7
onycholysis o" nails
A Childhood' scal!+ !eriocular+ "enital areas. also @nees+ elbows
A 85' to!ical steroids. i" severe* may need methotre5ate / 8NF:alpha inhi)itors
Seborrheic der#atitis
, =nfants8 Bcradle ca!0- Greasy )ro(n scales. starts on scalp in @rst "e( months o" li"e+
X can involve ears+ nose+ eyebrows+ eyelids 6vs ecRema7
X 8reat (ith @etocona9ole-containin" sha#!oo or lo(/med potency topical
corticosteroids
Pityriasis rosea' herald patch* then sal#on-colored lesions in christ#as tree
distribution
, n?no(n cause+ 85 (ith topical antipruritics* creams* antihistamines* [phototherapy
,rythe#a to(icu#' )enign* sel" limited* 412 newborns* un?no(n etiology. eosinophil in ;uid
A Qellow-white 1-2## lesion (ith surroundin" erythe#a. rash wa(eswane over
days/(?s o" li"e
Sal#on !atch R nevus si#!le(' ;at vascular lesions on na!e of nec@+ eyebrows. #ore
!ro#inent w cryin"
A Genign* sel":limited* "ade (ith time i" on "ace
%ar"e vascular ano#alies 6e+g+ ?aposi"orm hemangioendthelioma* tu"ted angioma7 can e5hi)it
the 7asabach-Eerritt !heno#enon : )asically seJuester !latelets+ 4&Cs & get !eri!heral
thro#bocyto!enia+ coa"ulo!athy+ #icroan"io!athic he#olytic ane#ia+
, can treat (ith corticosteroids* vincristine+ Can lead to e(cessive bleedin" during
sur"ery
Pustular #elanosis' )enign* sel":limited* neonatal rash* )lac?s H (hites* "ound at birth
, Pustules that rupture (ithin days and are then hy!er!i"#ented "or (ee?s. eventually
resolve
Sebaceous nevi' small+ shar!ly-ed"ed* head/nec? o" infantsG yellow-oran"e in color*
elevated* hairless
Eilia' @ne* yello(:(hite 0:/mm lesions scattered over "ace* gingiva o" neonates. cyst (/
?eratiniRed stuf inside
, $esolve spontaneously+ Called ,!steinDs !earls on palate
Pa!ular acroder#atitis of childhood <*iannoti-Crosti syndrome7'
, %symptomatic erythe#atous !a!ular eru!tion* ?ids 1-B yrs a"ter 54=* EG9* varicella*
!G9
, Suymmetrically on face+ e(tensor ar#sle"sbuttoc@s+ s!ares trun@
=nfantile he#an"io#as' o"ten not present at )irth* technically vascular tumros* can )e in any
location )ut most commonly head / nec?+ Generally !resent in 1st #onth+ "row for several
#onths 1 yr+ then involute slowly 6generally resolved )y 01 years o" age7+
8
A Can use !ro!ranolol "or severe he#an"io#as to speed involution=
Acne'
, Comedones' open E )lac?heads 6compacted melanocytes7. closed E (hiteheads
6prurulent de)ris7
, #+ acnes is implicated+
, Categories' in;ammatory 6papules/ pustules/nodules/cysts7 or non:in;ammatory 6Just
comedones7
, 8reatment'
X start (ith ben9oyl !ero(ide or topical 4etin-A <tretinoin7. o"ten try )enRoyl
pero5ide in morning* tretinoin at night 6need to (ash )enRoyl pero5ide of @rst "or
tretinoin to (or?7
\ 8retinoin : increases cell turnover* inhi)its microcomedone "ormation
X to!ical ab( ne5t 6erythro* clinda7 applied GID. can )e used at same time as
)enRoyl pero5ide or tretinoin
X syste#ic ab( ne(t 6usually tetracycline : have to ta?e on empty stomach* as
mil? products )ind tetracycline. also leads to photosensativity7
X ortho tri-cycline <1CP/ can also )e used+
X isoretinoin <Accutane7 "or severe+ resistent+ nodulocystic acne 6K mo course7
\ )erato"en? get ne"ative !re"nancy test immediately )e"ore
started. need efective contraception too+ $emem)er oral ab( can
decrease 1CP e>ectiveness* so )e care"ul (ith these patients (ho might
)e ta?ing tetracycline too=
\ Side efects' chelitis+ con6unictivitis+ hy!erli!ide#ia+ elevated
%.)s+ !hotosensitivity* can also get de!ression0
\ 8reatment can )e !rofound I !er#anent?
)inea barbae' can )e con"used (ith acne : resem)les tinea capitis+ reJuires syste#ic
antifun"als* not topical
Neonatal acne' /12 neonates in 0st month o" li"e. cause un?no(n 6hormone trans"er[7* sel":
limited
)inea ca!itus' &ost commonly )richo!hyton tonsurans 6also #icros!oru# canis "rom
animals7
, #atches o" scalin" and hair loss (ith ;blac@ dot si"n- 6)ro?en of hair sha"ts7
, Need oral "riseofulvin 6topical agents not efective* although do use selenium sul@de
shampoo as adJunct to ?ill spores7 "or K:M (?s+
)inea cor!orus' Bring (ormT* tinea !edis' "eet* o"ten in moccasin distri)ution* interdigital
spaces. tinea cruris' Joc? itch* all most commonly "rom #icros!oru# rubru#+ 8reat (ith
to!ical antifun"als 6e+g+ clotri#a9ole/
)inea versicolor' super@cial tan / hypopigmented oval / scaly patches on nec?* upper part o"
)ac? /chest* #ost notable when rest of s@in is tan fro# sunli"ht : treat (ith seleniu#
sulFde sha#!oo or other antifun"al a"ents0
9
Develo!#ent
*ross #otor .ine #otor %an"ua"e Social 1ther
0 mo
Start to li"t head
"rom e5am ta)le
Follo( eyes to
#idline only*
hands clenched
%lerts / startles to
sound. starts
vocaliRing a )it
$egards parentsP
"aces
Smiles
spontaneousl"
$esponds to )ell
/ mo
4aises chest* li"ts
head of ta)le i"
prone
Follo(s o)Ject
1S0 de"rees.
holds rattle
)rie;y
Coos* reciprocal
vocaliRation
Smiles sociall"*
laughs* sDueals*
recogniRes
parent
Sleep
through
night 6/:I
mo7
I mo
Follo(s toy "rom
side to side &
vertically
K mo
4ollin" over
'ead control (ith
no lag. li"ts onto
el)o(s
$eaches (ith
)oth hands
together* )ats at
o)Jects* gra)s &
retains
Orients to voice*
laughs* sDueals
Initiates social
interaction
B #o
Sitting up. tripoding
6needs support7
$each "or o)Jects
$oll over (ell
$eaches (ith
one hand & can
)trans"er hand:
hand
&abbles
$ecogniRes
o)Jects* persons
as un"amiliar
Introduce
Juices in
cup* not
)ottle
O #o
Sit without
su!!ort* crawls+
!ulls to stand
ses !incer
"ras! & Fn"er
feeds
Ga))ling still* BnoT
understood*
nons!eciFc
#a#a+ dada*
Gesture games
6pat a ca?e7* o(n
name* o)Ject
permanence*
stranger an5iety
0/ mo
<al? holding on to
"urniture 6cruises/*
a "e( independent
steps
#incer grasp &
release
6cheerios7. t(o
cu)e to(er
Speci@c mama*
dada - 0:K other
(ords
Imitates* comes
(hen called*
cooperates (ith
dressing
04 mo
:al@s well
independently
8(o cu)e to(er*
thro(s )all
underhand
K:M (ords - Jagon*
responds to 0 step
command
ses cu!*
indicates (ants /
needs
0U mo
4uns* (al?s up
stairs (ith help*
stoops / recovers
)hree )loc?
to(er* uses
spoon* scri))les
01:/4 (ords*
points to body
!arts*
communicates
needs / (ants
#lays near 6not
(ith7 other ?ids
/ yr
Stairs unassisted*
can @ic@ throw
ball overhand*
Jumps (ith t(o "eet
of ;oor
K:M )loc? to(er*
"or? / spoon*
copies strai"ht
line
50 words total
2 (ord sentences
412 speech
intelligi)le to
stranger
$emoves simple
clothes* parallel
play
#otty
training 6or
(hen child
sho(s
interest7
I yr )ricycle* broad Copies circle 250T words Fno(s age*
10
6u#!s
2-S (ord
sentences
Q42 speech
intelligi)le
gender. group
play* shares
K yr
Stand on each leg
"or / seconds
Copy sJuare
cross+ catches
ball
.ully
understandable
language : can
tell a story K
colors* can de@ne
4 (ords* ?no(s I
adJectives
Dresses sel"* puts
on shoes* (ash /
dry hands*
i#a"inative
!lay
4 yr
Stand on each leg
"or 4 seconds / s?ips
(ith alternating "eet
Dra(s person
(ith M )ody parts
%s?s (hat (ords
mean
names K colors*
plays cooperative
games*
understands
rules
M yr $ides )i?e <rites name
<ritten letters*
num)ers
Fno(s right vs
le"t* ?no(s all
colors
%an"ua"e is V0 predictor o" "uture intellectual potential+
Constitutional "rowth delay' F!5 Blate )loomersT* gro(th rate is normal )ut running along
lo( 2ile*
A bone a"e K chron a"e 6can catch up7+ 8 inJections can BJump startT pu)erty
.a#ilial short stature8 short child o" short parents+ gro(th rate is normal )ut running along
lo( 2ile*
A bone a"e R chron a"e 6no catch:up potential7
*' deFciency ' 0/K? children* slo( gro(th* fall o> of curve* children loo? younger* wt a"e L
ht a"e 6chu))y7
, bone a"e K chron a"e 6catch up potential7
, Screen (ith seru# =*.-1 or so#ato#edin C T =*.-&P2* $5 (ith reco#bi *'
in6ections until adult ht
, Can have functional *' deFciency i" psychosocially deprived : loo? Just li?e primary G!
de@ciency ?ids. blunted *' res!onse to G! testing. resolevs (hen removed "rom
environment+
'y!othyroidis#' usual s5* )ut also slow "rowth - see bone a"e K chron a"e 6can catch up7
,ndocrinolo"y
Diabetes
Criteria for DE'
, Casual glucose H 200 (ith si"ns s(
11
, 1*)) H 200 on / occasions
, .&* L 12B on / occasions
, 'bA1c L B05P
Presentation of DE' Fids mostly symptomatic+ ] in DF%* others (ith polys* other s5+ 9s
adults 6screening7
E1DQ' #ono"enetic 6autosomal do#inant7 "amily o" disorders
, 8hin? youn" adult+ late teen #ithout o$esit" )ut (/ )2DE-ish !resentation 6)ut no
insulin resistance7
, Involve transcription "actors in )eta:cell development* gluco?inase* etc+
)2DE' thin? o" ris@ factors 6o)esity* F!5* H ^:01 years old7+ %an present in D7A in ?ids
, =nsulin is an option* )ut o"ten start (ith oral a"ents 6all o" (hich drop %0c )y 0:/27
, Eetfor#in is usually (hatPs used @rst
)1DE' patients are youn"er at onset
, %nti:islet cell* anti:*AD* anti:insulin* anti:=AU anti)odies
X )-cell #ediated process. a) are Just #ar@er of cell destruction
, Chec? "or insulin production in 0:/ years to distinguish 6i" still ma?ing insulin* pro)a)ly
8/D&7
, 'oney#oon !hase' still ma?ing insulin+ high )lood glc is to5ic to )eta cells+ <hen you
start insulin* decreased glucose increases )eta cell "unction. can stop insulin "or a (hile+
D7A vs ''S
, DF%' @etoacidosis (ith elevated gap* ?etones in urine
, !!S' lactic acidosis (ith elevated gap* "e( ?etones in urine
=nsulin regimens' thin? basalbolus
, )DD' 1+U:0+1 /?g/day. i" still ma?ing insulin 1+4:1+M u/?g/day
, &asal' usually lantis* Dd+ 50P )DD
X Should ?eep you steady overnight : chec? traJectory o" glucose during the night+
, &olus' novolog* humalog* epidra+ 50P )DD
X =8C ratio E 350)DD 65 units insulin per g o" car)7
\ Should ?eep you the same )e"ore / a"ter meal : chec? )e"ore/a"ter at a
time (hen no correction dose (as given to assess
X Correction dose E 1S00 )DD 6give 0 unit insulin per 5 mg/d> glc over target7
\ Should )ring you to your target i" the I'C ratio is correct : once you
have the I'C ratio right* then see i" youPre hitting the mar? (ith correction
doses+
So#o"yi !heno#enon ' nocturnal hypoglycemic episodes 6night terrors* !/%* early morning
s(eating7 then present a "e( hrs later (ith hyperglycemia* ?etonuria* glucosuria 6counter:reg
hormones responsi)le7
D7A #ana"e#ent'
, .luid resuscitation8 calculate ;uid de@cit* replace over /Kh+ $un lac ringers or I9NS A
12
01m>/?g to start+
, =nsulin dri! A 1+0 /?g/hr. goal to decrease glucose 41:011 mg/hr 6too "ast a drop E
cere)ral edema=7
X Add de(trose (hen glucose approaches /41:I11 to prevent hypoglycemia
, Eonitor for hy!o@ale#ia "reDuently & replace 6total )ody F is do(n=7
'y!o"lyce#ia' sy#!athetic symptoms 6s(eating* sha?ing* tachycardia* an5iety7 & neuro s5
6!/%* con"usion* irrita)ility* lethargy* coma* etc7
, I" glucose 3 41 mg/d>* get a critical sa#!le 6C&# (ith )icar)* insulin* c:peptide* cortisol*
G!* "ree "atty acids* )eta:hydro5y)utyrate* acetoacetate* lactate* ammonia7 to hel!
deter#ine etiolo"y later=
Diabetes insi!idus' not enough %D!+ From )rain tumors* CNS in"ections* surgical removal o"
craniopharyngeoma
, #olydypsia+ polyuria. d5 (ith dilute urine 6SG 3 0+101* osm 3 I117 in setting o"
hy!ertonicity 6hyperNa7
, sually not a pro)lem unless not ta?ing in enough (ater+ 8reat (ith DDAVP
S=AD'' too much %D!+ #sych dR* encephalitis* drugs 6lisinopril* car)amaRepine* 8C%s7
, nor#ovole#ic hy!onatre#ia (ith concentrated urine* normal renal "5n+ Na K 125 R
s(
, D5 o" e5clusion : r/o hyperglycemia* increased serum lipids+
, manage (ith $uid restriction. acutely can use hy!ertonic saline to raise Na )y 1+4
mED/hr* ma5 0/ mED/hr to avoid central !ontine #yelinolysis
Con"enital Adrenal 'y!er!lasia
21 hydro(ylase deFciency' ^12 o" C%! cases* aut rec trait* can )e salt wastin" or virili9in"
A Need /0 hydro5ylase to ma?e aldosterone / cortisol. i" not* !recursors bac@ u! & end up
(ith andro"ens
A Decreased cortisol aldosterone --L increased AC)'+ 1V hydro(y!ro"esterone
13
W Virili9ation (ith low &P+ salt wastin"+ low cortisol - .))* shoc?* dehydration*
hypoNa/hyperF
W Females' a#bi"uous "enitalia (ith normal ovarian development / internal
structures
W &ales' no genital a)normalities
A <ill need cortisol thera!y and $udrocortisone i" needed "or mineralocorticoid
replacement
11 hydro(ylase deFciency' also autosomal recessive
, Inhi)its aldosterone* cortisol production again* )ut deo(ycorticosterone precursor has
#ineralocorticoid activity : so you get hy!erNa+ hy!o7+ ')N along (ith increased
androgen levels
Addison disease' primary adrenal insu_ciency+
, Congenital 6adrenal hypoplasia* %C8! unreponsiveness7 or acDuired 6<:F syndrome (ith
meningococcus* adrenal hemorrhage7+ autoi##une more common in older @ids
adolescents & a/( D& type 0* thyroditis* etc+
, <ea?ness* N/9* (t loss* !/%* salt craving* postural hypotension. can get increased
!i"#entation 6melanocyte stimulating hormone ramped up (ith increased %C8!7 :
Addisonian tan+
, Adrenal crisis' "ever* vomiting* dehydration* shoc? "rom illness* trauma* surgery :
e#er"ency?
, See hy!oNa+ hy!er7+ hy!o"lyce#ia+ #ild #et acidosis
, 8reat (ith corticosteroids+ stress dose (hen needed+ Need #ineralocorticoids too i"
(hole adrenal involved+
Secondary adrenal insuXciency' caused )y %C8! de@ciency 6usually withdrawal of chronic
steroid thera!y* more rarely "rom pituitary tumors* etc7+
, S5 li?e primary %I* a)ove. treatment similar )ut donPt need mineralocorticoids i" Just %C8!
de@cient+
Cushin"Ds syndro#e
, Cushin"Ds disease8 bilateral con"enital adrenal hy!er!lasia "rom !itutiary
adeno#a is V0 cause in ?ids 6a"ter e(o"enous corticosteroids* o" course7
, D5' elevated seru# cortisol+ 23h urine free cortisol+ #idni"ht salivary cortisol
X i" high* go on to de(a#ethasone su!!ression test 6de5amethasone in late
evening (onPt suppress cortisol in morning7+ hi"h dose de(a#ethasone
su!!ression' canPt suppress e5ogenous %C8! 6e+g+ SC>C7. much less common in
?ids though+
, 85' re#ove adrenal tu#ors i" present
Con"enital hy!othyroidis#'see constipation* !rolon"ed 6aundice+ sluggishness* poor
"eeding* apnea* cho?ing* #acro"lossia* e5cessive sleepiness+
, %void delays' initiate oral levothyro(ine0
, lo( F8K* high 8S!+ ^12 in S have thyroid dysgenesis+ Screened as neonates+
Pseudohy!o!arathyroidis# 6Albri"ht hereditary osteodystro!hy7 : #8!:resistant at
14
receptor level
, Chemical @ndings o" hypoparathyroidism <low Ca+ hi"h !hos/ )ut hi"h P)'
, Short stature (ith delayed )one age* E4+ increased )one density esp in s?ull*
brachydactyly of 3th and 5th di"its+ obesity (ith round "aces* short nec?*
subca!sular cataracts+ cutaneous and su)Y calci@cations* !erivascular calciFcations
o" the basal "an"lia+6theyPre #8!:resistant at receptor level7
.luids
E=V.8 $emem)er8 1005025 m>/?g/day* or 321 m>/hr 6"or @rst 01?g/ second 01 / rest o" ?g7
, Short:cut' i" over 20 @"* needs wt in @" T 30 m>/hr
, se D4< ] or ` NS - /1 mED FCl 6] "or younger ?ids* ` "or older. add F i" needed7
Dehydration8
4e!lacin" losses' calculate de@cit "rom a)ove+ $eplace half over Frst S hours+ rest over
ne(t 1Bh
, I" they got a )olus already* su)tract that "rom the @rst hal"+ I" unsta)le* give 20 cc@"
boluses until theyPre not unsta)le anymore+
, E5ample' /1?g ?id (ho is 012 dehydrated 6moderate7 and got a /1 m>/?g )olus in the ED
X De@cit E /?g E /*111 m>+ <ant to replace 0*111 in @rst U hours* 0*111 in ne5t 0M
hours
X &I9F "or him is M1 m>/hr
X First U hrs' 0*111 : K11 cc )olus already given E M11 over U hrs E Q4 cc/hr+ %dd in
&I9F' give Q4cc/hr - M1 cc/hr E 0I4 cc/hr
X Ne5t 0M hrs' 0*111 cc / 0M hr E M/+4 cc/hr+ %dd in &I9F' give M/+4cc/hr - M1cc/hr E
0//+4 cc/hr
'y!er@ale#ia' i" F H 4+U+ O"ten arti"actual 6hemolysis7 )ut rechec?+
, #aresthesias* (ea?ness* ;accid paralysis* tetany+
, EFG' !ea@ed )-waves+ wide M4S+ V-.ib+ code A Z O mED/>
, 8reat (ith calciu# "luconate to sta)liRe the mem)rane. can have them hyperventilate
too 6al?alosis ::H e5change F "or !* drives inside7* insulin T "lucose to drive inside also*
then 7aye(ylate or other e5change resin to get out o" )ody+
15
'y!o@ale#ia' i" F 3 I+4+ 8hin? loo! diuretics or vo#itin" induced al?alosis* or @etoacidosis
, <ea?ness* tetany* constipation* polyuria/polydypsia
, EFG' $attened ) waves+ !rolon"ed M)+ 8reat )y correctin" !'+ re!lentishin" 7
orally or I9+
*enetics I 1ther Con"enital Stu>
)erato"ens
Dru" 4esults
:arfarin <Cou#adin/ 'y!o!lastic nasal brid"e* chondrodys!lasia punctata
,thanol Fetal alcohol syndrome* #icroce!haly* C!D 6septal de"ects* #D%7
=sotretinoin
<Accutane/
.acial and ear anomalies* C'D
%ithiu# C!D 6,bstein anomaly* atrial septal de"ect7
Penicilla#ine Cutis la(a syndrome
Phenytoin <Dilantin/
'y!o!lastic nails* intrauterine "rowth retardation* cleft li! and
!alate
4adioactive iodine Congenital "oiter* hy!othyroidis#
Diethylstilbestrol Va"inal adenocarcino#a during adolescence
Stre!to#ycin Deafness
)estosterone-li@e
dru"s
Virili9ation o" "emale
)etracycline Dental ena#el hy!o!lasia* altered bone gro(th
)halido#ide Phoco#elia* C'D 68OF* septal de"ects7
)ri#ethadione 8ypical facies* C!D 68OF* 8G%* !>!S7
Val!roate S!ina biFda
Chro#oso#al disorders
)riso#y 21'
, 4th @nger )rachydactyly & clinodactyly* upslanting palpe)ral @ssures* epicanthal "olds*
redundant nuchal s?in* single transverse palmar crease* &rushFeld s!ots 6(hite/gray
spots in periphery o" iris7* ;at "acial pro@le* small* rounded ears* hyper;e5i)le Joints* poor
&oro re;e5* )rachycephaly* (ide 0st//nd toe spacing* short stature+ hy!otonia & o"ten
slower feedin" noted early on+
, %/( advanced maternal age+ ^42 "rom nondys6unction
X also translocation 6can )e "amilial7* #osaicis# as less "reDuent causes+
, %/( cardiac defects 64127 incl endocardial cushion 6M127* VSD 6I127* 8et o" Fallot
6M27* also duodenal atresia 60/2* see double-bubble !attern* have bilious e#esis
a"ter @rst "eedings7+ Other associations' hearing loss* stra)ismus* cataracts* nystagmus*
16
congenital hypothyroidism 6evaluate (ith optho* thyroid* hearing7+
, !igher ris? leu@e#ia+ Al9 d9 later on+ IYs can vary (idely+
, &ay have cervical s!ine instability' care"ul (ith activities that may involve "orce"ul
;e5ion
)riso#y 1S' ,dwards Syndrome
, >o(:set* mal"ormed ears* microcephaly* roc@er-botto# feet+ inguinal hernias* cle"t lip/
palate* #icro"nathia* clenched hands (ith overlapping digits* small palpe)ral @ssures*
prominent occiput* small pelvis* short sternum* cardiac de"ects 69SD/%SD/#D%* coarcs7+
)riso#y 128 Patau Syndrome
, microcephaly* sloping "orehead* holoprosencephaly* cutis a!lasia 6missing part o" s?in &
hair7* !olydactyly+ #icro!hthal#ia* colobo#a+ omphalocoele+ %lso cle"t lip / palate*
cardiac de"ects 69SD/%SD/#D%/de5trocardia7* hypersensitivity to atropine / pilocarpine
containing agents+
)ri!le screen &'() * uncon+ugated estradiol,
A.P 5,2 hC* Associated conditions
lo( lo( hi"h Do(n Syndrome
lo( lo( lo( trisomy 0U 6Ed(ardOs syndrome7
high n/a n/a
neural tu)e de"ects li?e spina )i@da associated (ith increase
levels o" acetylcholinesterase in aminonic ;uid* or omphalocele*
or gastroschisis* or multiple gestation
4ett syndro#e' &EC#/ gene on C chromosome+ *irls afected+
A nor#al at birth )ut then ra!id decline B-1S #o (ith loss of use of hands+
steroty!ed hand-wrin"in" behaviors* lose a)ility to co##unicate sociali9e
'olt-1ra# syndrome' a)normalities in u!!er e(tre#ities+ hy!o!lastic radii+ thu#b
a)normalities* cardiac a)normalities+ &ay )e missing !ectoralis #a6or #uscle too+
Se( Chro#oso#e Disorders
7linefelter Syndro#e <YYQ/ ' )ehavior pro)lems 6immaturity* insecurity7* develo!#ental
delay 6speech* language* lo(er IY7* "yneco#astia+ hy!o"onadis#+ lon" li#bs0 O"ten
undiagnosed until pu)erty+ 8 replacement can allo( "or more normal adolescent development
6)ut aRoospermia is the rule7. also incr ris@ breast cancer?
YQQ #ales' classically BJuvenile delinDuentsT 6e(!losive te#!ers7* severe nodulocystic acne*
mild !ectus e(cavatu#* large teeth* prominent gla)ella* relatively long "ace / @ngers* poor @ne
motor s?ills 6penmanship7* low-nor#al =Ms+ >ong* asymmetrical ears+ 8end to )e taller than
peers* aggressive starting at age 4:M
)urner syndro#e' !ri#ary a#enorrhea+ short stature* hy!ertension 6horseshoe @idney/*
coarctation o" the aorta 6and )icuspid aortic valve7* lo( posterior hairline* prominent* lo(:set
ears broad ;shield- chest with widely s!aced ni!!les* e(cessive nuchal s@in+
17
hy!othyroidis#* decreased hearing* edema in hands/"eet as ne()orns* cubitus val"us
6increased carrying angle o" arms7+ Nor#al #ental development+
.ra"ile Y' V0 cause inherited mental retardation+ &ostly in )oys. intellectual disability -
#acroce!haly+ lon" face+ hi"h arched !alate+ lar"e ears+ #acroorchidis# a"ter pu)erty+
VA),48 Verte)ral pro)s* Anal anomalies* )racheal de"ects* ,sophageal a)nltys* 4adius or 4enal
a)normalities
Potter seJuence' lac? o" nl in"ant ?idney "5n ::H reduced urine output ::H oligohydranmios ::H
constraint
, de"ormities' (ide:set eyes* ;attened palpe)ral @ssures* prominent epicanthus* ;attened
nasal )ridge* micrognathia* large* lo(:set ears
Stora"e disorders
Disease De@cient/ )uilds up Features
)ay-
Sachs
&-he(osa#inidase
A
6a G&/
gangliosidosis7
Aut-rec+ esp Ash@ena9i News0 Nor#al:appearing at
)irth+ then !ro"ressive develo!#ental deterioration*
not loo?ing at parents* increased ;startle0- Cherry-red
s!ots in macula* sensitive to noise+
Sandho>
G:he5osaminidase
AI& 6a G&/
gangliosidosis7
Nie#ann
Pic@
S!hin"o#yelinase
Normal:appearing at )irth* then he!atos!leno#e"aly+
%AD+ !sycho#otor retardation in @rst M mo* then
re"ress #ore
*aucher &-"lucosidase
Increased tone+ strabis#us+ organomegaly* F88* several
years o" !sycho#otor re"ression )e"ore death+
Classically can see $as@-sha!ed bones* eg+ "emur* on 5:
ray
7rabbe
"alactocerebrosid
ase
Early in in"ancy' irritability + hy!ertonia+ o!tic atro!hy*
severe delay & death in @rst I years o" li"e
.abry &-"alactosidase
Older childhood' an"io@erato#as in Bbathin" trun@
areaT. severe !ain e!isodes+ acro!aresthesias
6num)ness / tingling in e5tremities7* can have cataracts too
'urler a-iduronidase
A #uco!olysaccharidosis0 coarse facies* corneal
clouding* ?yphosis* he!atos!leno#e"aly+ um)ilical
hernia* congenital heart disease+ Aut-rec
'unter
iduronate:/:
sul"atase
A #uco!olysaccharidosis0 >i?e !urlerPs )ut Y-lin@ed &
no corneal cloudin"
Cherry red s!ot' thin? G&/ gangliosidoses 6)ay-Sachs+ Sandho>7 or Nie#ann-Pic@
, $epresents center o" normal macula surrounded )y lipid:laden gangion cells+
18
Eetabolic disorders
<hen these ?ids get sic?* "ive the# "lucose 6they go craRy cata)olic & all ?inds o" stuf )uilds
up::H )ig time high %G met acidosis* and they get in trou)le fast7+
*alactose#ia
6a disorder o"
carbohydrate
#etabolis#/
#resents in Frst wee@s of life 6"ormula /
)reast mil?7 F88* dehydration* listlessness*
irrita)le* 6aundiced <indirect hy!erbili/*
elevated %.)s* hy!o"lyce#ia* normal
serum ammonia* #ouse-li@e urine odor+
%lso may have cataracts+ ascites0
&ost commonly de@ciency in
"alactose-1-P uridyl
transferase0
!igher ris? "or e0 coli se!sis0
)(8 re#ove "alactose "rom
diet+
P75 6a
disorder o"
a#ino acid
#etabolis#/
S5 develop in childhood 6unli?e other %%
disorders7
Eoderate-severe E4+ hypertonia*
tre#ors+ )ehavioral pro)lems+ %i"ht
co#!le(ion+ fair s@in+ blonde hair
6tyrosine needed "or melanin=7 #ouse-li@e
urine odor+ -f mom has P.' / isnt
managing her diet, $a$" can have 01, %2D,
etc3
De@ciency in !henylalanine
hydro(ylase 6canPt convert
phenylalanine to tyrosine7+
Neonatal screened+ 85'
restrict !henylalanine
consu#!tion
'o#ocystinur
ia 6d/o o"
a#ino acid
meta)olism7
no s5 in in"ancy )ut loo@ li@e EarfanDs+
Vascular thro#boses ::H childhood
stro@e+ E=
Cystathione synthetase
de@ciency 6canPt convert met
to cys/ser7+ Dietary
management hard 6lo(
protein* "oul tasting7+ 412
respond to hi"h dose
!yrido(ine
1)C
DeFciency
6%% / urea
cycle disorder7
#resents 23-3Sh a"ter !roteins introduced
in "eeds : lethar"y+ co#asei9ures+ hi"h
a##onia0
Can measure level o" orotic acid 6)yproduct
o" car)amoylphosphate meta)olism7 in urine
to help d5
Y-lin@ed O8C de@ciency+
5rea cycle pro)lem 6ornithine
- car)amylphosphate ::H
citrulline in mito7+ CanPt ma?e
urea E a##onia )uilds up=
85' very low !rotein diet
6)ut really hard7
*lyco"en stora"e diseases' all aut:rec* "rowth failure+ he!ato#e"aly+ fastin"
hy!o"lyce#ia
, 8ype I' von *ier@e+ type II' Po#!e* type 9' EcArdle
, 8reat' !revent hy!o"lyce#ia (hile simultaneously avoiding even more glycogen
storage+
1ther =nherited Disorders
Autoso#al Do#inant
Chr *ene Co##ents
19
Achondro!lasia Kp FGF$I
U12 ne( mutations.
!ro(i#al li#b shortenin"
Adult !olycystic
@idney d9
0Mp #FD0/#FD/ 4enal cysts* intracranial aneurysm
'ereditary
an"ioede#a
00D C0N!
De@ciency o" C1 esterase inhibitor. episodic
edema
'ereditary
s!herocytosis
Up* 0KD %NF0
Osmotic "ragility test. some aut:rec variants
too* spherocytes & anemia
Earfan syndro#e 04D FGN0
Aortic root dilatation* tall stature*
hypere5tensi)le long tapering @ngers* etc+
NeuroFbro#atosis
/p*
0QD*
//D
NF0/NF/
412 new #utationsG
cafZ au lait spots
Protein C deFciency /D
&ultiple
genes
'y!ercoa"ulable state
)uberous sclerosis
^D*
0/D*
0Mp
8SC0* 8SC/*
8SCI* 8SCK
BAsh-leafT spots. sei9ures
von :illebrand
disease
0/p
&ultiple
genes
Abnor#al !latelet f(n I reduced factor
V===* ristocetin co"actor assay
Autoso#al recessive
Chr *ene Co##ents
Con"enital adrenal
hy!er!lasia
Mp Ca#/0%/*
Ca#00%0*
Ca#0Q*
%C8!$
&ultiple types : salt-wastin"*
virili9ation* etc+
Cystic Fbrosis QD* 0^D CF8$ Caucasians. pancreatic insu_ciency*
lun" dR* etc+
*alactose#ia
disorder
^p G%>8 Carbohydrate meta)olism
*aucher disease 0D GG% Ash@ena9i We(s+ %ysoso#al storage
disorder
=nfantile !olycystic
@idney
Mp 6or 0Mp
E #FD0*
8SC/7
#FDI 4enal and he!atic cysts* hy!ertension
Phenyl@etonuria 0/D #%! A#ino acid meta)olism disorder
Sic@le cell disease 00p !GG Incr+ in %%+ Sic@le crises*
20
autos!lenecto#y* etc+
)ay-Sachs disease 04D !EC% Ash@ena9i We(s+ %ysoso#al storage
disorder
:ilson disease 0ID %8#QG De"ective co!!er e(cretion N chorea*
7.-rin"s
Y-lin@ed recessive
Co##ents
&ruton a"a##a"lobuline#ia Absence o" i##uno"lobulins. recurrent infections
Chronic "ranulo#atous disease Defective @illin" )y phagocytes. recurrent in"ections
Color blindness
Duchenne #uscular dystro!hy Pro(i#al #uscle wea@ness. *ower sign
*lucose-B-!hos!hate
dehydro"enase
O5idant:induced he#olytic ane#ia de@ciency* incr+ in
%%
'e#o!hilias A and & Factor 9III / IC de@ciency
%esch-Nyhan syndro#e Purine meta)olism disorder. self-#utilation
1rnithine transcarba#ylase
deFciency
5rea cycle disorder. hy!era##one#ia
=#!rintin" 6or "rom uniparental disomy7 : the 15J11-12 disorders
, Prader willi - missing the Parental copy+
X almond shaped eyes* do(n:turned mouth* small hands/"eet* short stature*
hy!o"onadotro!ic hy!o"onadis#* incomplete pu)erty* hy!otonia 6F88 in
in"ancy7* then uncontrollable a!!etite --L severe central obesity 6loc? the
"ood a(ay=7+ OS%* pic?(ic?ian syndrome can result+
X #ild E4 (ith characteristic i#!ulse control too
, An"elEan syndrome' missing the Eaternal copy0
X ma5illary hypoplasia* large mouth* prognathism* short stature+
X Severe E4 (ith i#!aired absent s!eech & inappropriate !aro(ys#s of
lau"hter
X Wer?y arm movements* ata5ic gait* tiptoe (al? E Bha!!y !u!!et- syndro#e
*=Nutrition
Nor#al caloric reJuire#ents'
, 120 @cal@"d in @rst year o" li"e
, 100 @cal@"d a"ter(ards
, 50-100P more i" F88 "or catch:up gro(th
.or#ula has 20 @calo9 6I1cc E 0 oR7 generally 6i" prepared properly7
21
.eedin"'
, Greast e5clusively - vitamin D* iron "or @rst M months 6or "ormula7
, %dd iron "orti@ed cereals at K:M months
, Start )a)y "oods at M months 6"ruits* veggies7. introduce one ne( "ood at a time+
, <hole mil? at 0/ months until /K months. s?im mil? at /K months
, DonPt prop )ottle= get caries=
Colic' recurrent irrita)ility* several hours long* late a"ternoon/ evening* dra(s ?nees to a)domen
& cries inconsola)ly* )ut then stops spontaneously
.or#ula#il@table food I nutrient deFciencies'
, *oatDs #il@ lac?s folate+ &12+ iron+ I" unpasteuriRed* brucellosis can )e a pro)lem
, &reast #il@ lac?s vita#in D+ Can e5acer)ate Jaundice 6higher unconJugated
)iliru)inemia. 0/:/Kh hiatus to @57* and associated (ith lo( vitF levels 6)ut given at )irth7+
Greast:"eeding ve"an #o#s are given &12 6may )e de@cient. child could develop
methylmalonic acidemia7. so are vegan toddlers+
, :hole #il@ is lo( in iron. ta)le "oods donPt have iron either : so i" a ?id is s(itched to
(hole mil?* ta)le "oods at too young an age* can develop iron deFciency ane#ia
&reast feedin"
, Contraindications' active !ul# )&+ '=V* also malaria* typhoid "ever* septicemia*
antineoplastic agents
, OF' #astitis 6"reDuent "eedings can help )y preventing engorgement=7* #ild viral
illness* crac@ed bleedin" ni!!les 6despite discom"ort7
17 "or )reast:"eeding mom Contraindicated "or )reast:"eeding mom
&ost anti)iotics e5cept "or tetracycline
Sedatives* narcotics 6)ut monitor "or
sedation7
>ithium* cyclosporin* antineoplastic agents* illicit
drugs* ergotamines* )romocriptine 6suppresses
lactation7* tetracycline
*alactose#ia' de@ciency o" uridyl transferase. results in 6aundice+ he!atos!leno#e"+
vo#itin"+ hy!o"lyce#ia+ sR* lethargy* irriti)ility* poor "eeding & F88* aminoaciduria* liver
"ailure* &$* incr+ ris? E+ coli sepsis
, S5 (hen ta?ing mil?. manage (ith lactose-free for#ula li?e soy #il@
)o(icities8
)o(icity S( D(
%ead >oo? "or h5 o" e5posure
S5' anore(ia* hy!erirritability* altered speech pattern developmental regression*
abdo#inal complaints+ Can progress to ence!halo!athy 6vomiting* ata5ia*
altered &S* coma* sR7+
D5' blood lead level+ %lso stored in )one 6lvls can rise a"ter chelation as #)
released "rom )one=7
22
85'
, Education* environmental eval* etc+
, Chelation i" Pb L 35 6D&S%/succimer or CaED8%7+
, 'os!itali9e I chelate i" G>> H V00 Ad#it i" sy#!to#atic
1r"ano-
!hos!ha
te
6cholinesterase inhi)itors7 : insect sprays* etc
D5E&&,%S 6diarrhea/de"ecation* urination* miosis* )radycardia* )ronchorrhea*
emesis / e5citation o" muscles* lacrimation* salivation7
)(8 Atro!ine 6anticholinergic7* Pralido(i#e 6regenerate cholinesterase7
1rellanin
e
8o5in "ound in Cortinarius spp o" mushrooms
A Nausea+ vo#itin"+ diarrhea (ith renal to(icity a "e( days later
#CGs #olychlorinated )iphenyls. cross placenta / go to )reast mil?* [ cause )ehavioral
pro)s later
Cyanide !eadache* agitation* sei9ure+ dysrhyth#ia+ severe #etabolic acidosis
Eercury -
ele#ental
No s( i" Just a small )it 6thermometer7
*= co#!laints i" ele#ental+ in"ested
4-, fever, chills, 25A, vis changes, pneumonitis, chest pain if elemental inhaled3
Eethyl
#ercury
6contaminated @sh7
Adults8 Fne tre#ors in upper e5trem* blurry vision+ anos#ia / taste pro)s*
dementia* death
=nfants e5posed in utero' >G<* #icroce!haly* sR* developmental delay*
visionhearin" pro)s
=nor"anic
#ercury
6"elt* Bmad hatterT7
Gingivostomatitis* tremor* neuropsych distur)ances
Arsenic
Nausea+ vo#itin"+ abdo#inal !ain+ diarrheaG can get third spacing /
he#orrha"e in "utG also lon" M)+ C'.* sR* cere)ral edema* coma+ Get loss of
D)4s* paralysis* dysesthesias neuro:(ise
)CAs Smaller ?ids' CNS s5 predominate 6dro(sy* lethargic* coma* seiRures7
Older ?ids' Cardiac s5 predominate 6wide M4S+ bundle branch bloc@s7
85' ad#it to =C5* give )CA .ab fra"#ents i" availa)le
Aceta#in
o-!hen
Nausea+ vo#itin"+ dia!horesis over 23-3Sh
#ea? liver "unction a)normalities in 2-2 days. either recover or get (orse in /:I
(?s
8reat (ith n-acetylcysteine
Anti-
choliner"i
cs
atropine* 0st generation antihistamines* etc+
&ad as a hatter* red as a )eet* )lind as a )at* hot as a hare* dry as a )one
85' !hysosti"#ine in select cases+ se activated charcoal
C1 lethargy* irrita)ility* con"usion* diRRiness* !/%* cyanosis* palpitations
D5' blood carbo(yhe#o"lobin levels+ See #et acidosis (ith nor#al Pa12
on )lood gass* also myoglo)inuria7
85' o(y"en 6normo)aric 0112* hyper)aric i" availa)le "or severe poisoning7
23
,thylene
"lycol
%nti"reeRe* radiator ;uid* etc+ %nore5ia* vomiting* lethargy+
Chec? serum level* high %G met acidosis+ envelo!e-sha!ed calciu# o(ylate
crystals in /%
8reat (ith fo#e!i9ole 6)loc?s meta)olism7* can use Na!COI to correct met
acidosis
Eethanol N/9* ine)riation* increase in minute ventilation as met acidosis develops* blurred
vision
Get serum methanol level. high %G met acidosis
8reat (ith ethanol to )loc? meta)olism* Na!COI to correct met acidosis
Salicylate
s
!ypernea / tachypnea' mi5ed res!iratory al@alosis I #etabolic acidosis 6see
increased p! (ith decreased #CO/ and )icar)7+ get seru# salicylate level
8reat (ith activated charcoal & al?aliniRe serum* correct hypoF
Activated charcoal'
, Good "or enterohe!atic circulation drugs 6)CAs+ !entobarb7 and those (ith
!rolon"ed absor!tion 6e+g+ sustained release theophylline7 to clear out "rom gut
X %dminister during @rst "e( hours a"ter ingestion i" indicated+
, Not good "or alcohols+ acids+ ferrous sulfate+ stron" bases 6drain cleaners* oven
cleaners7* cyanide+ lithiu#+ !otassiu# : not a)sor)ed )y particles on sur"ace
Nutrients8
Nutrient DeFciency ,(cess
Vita#in A
Ni"ht blindness* 5eropthalmia 6dry
eyes7* ?eratomalacia 6dry cornea7*
con6uncitivitis* poor gro(th+ i#!aired
resistance to infection* a)normal
tooth enamel development
=ncreased =CP+ anore(ia*
carotenemia* hy!erostosis
6pain* s(elling o" long )ones7*
alo!ecia* he!ato#e"aly* poor
gro(th
Vita#in D
4ic@ets 6elevated serum phosphatase
levels )e"ore )one de"ormities7*
osteo#alacia* in"antile tetany+ See
lo( /KO!D* lo( Ca* elevated al? phos*
poor )one mineraliRation* increased "5
ris?+ sually nor#al seru# Ca+ )ut
low seru# !hos+
'y!ercalce#ia* a9ote#ia*
poor gro(th+ NVD* calcinosis
o" a variety o" tissues* including
?idney* heart* )ronchi* stomach
Vita#in , 'e#olytic ane#ia in preemies n?no(n
Vita#in C
<ascorbic acid/
Scurvy* poor wound healin"
Can predispose to @idney
stones 6calcium o5alate7+ %lso
diarrhea* cramps
)hia#ine <&1/
&eriberi 6neuritis+ ede#a+ cardiac
failure7* hoarseness* anore(ia*
restlessness* aphonia
n?no(n
24
4ibo$avin <&2/
Photo!hobia+ cheilosis+ "lossitis+
corneal vasculari9ation+ poor gro(th
n?no(n
Niacin
Pella"ra 6dementia* dermatitis*
diarrhea7
Nicotinic acid E $ushin"+
!ruritis
Pyrido(ine
<&B/
=nfants8 irritability+ convulsions+
ane#ia0
1lder !atients on isoniaRid'
der#atitis* "lossitis* cheilosis*
peripheral neuritis
Sensory neuro!athy*
also "ever & pain
.olate
&egalo)lastic anemia* glossitis*
pharyngeal ulcers* impaired cellular
immunity
sually none
&12
Pernicious ane#ia+ neuro
deterioration+ #ethyl#alonic
acide#ia
n?no(n
Pantothenic
acid
$arely de!ression+ hy!otension*
muscle (ea?ness* a)dominal pain
n?no(n
&iotin
Der#atitis+ seborrhea+ anore(ia* mm
pain* pallor* alopecia
n?no(n
Vita#in 7 'e#orrha"ic mani"estations
<ater:solu)le "orms can cause
hyper)iliru)inemia
&iliary Atresia8 )ile duts )loc?ed* @)rotic ::H no )ile ;o( into )o(el0
, Fasai procedure 6)o(el loop "orms duct to drain )ile "rom liver7 can )e use"ul+
Poor bile $ow 6)iliary atresia* liver "ailure7 E poor AD,7 absor!tion
Pri#ary <fa#ilial/ hy!o!hos!hate#ia8 [1 cause of nonnutritional ric@ets* Y-lin@ed
do#inant dR
, a)nl phosphate rea)sorption. a)nl /4vitD to 0*/4vitD conversion in pro5 tu)ules o" ?idney
a)normal
, >o( 0*/4vitD* lo(Enor#al Ca+ low !hos!hate+ elevated al?:phos* hyperphosphaturia*
no hyper#8!
, Smoother lo(er e5tremity )o(ing 6Ca:dependent ric?ets E more angular7* (addling gait*
no rachitic rosary* tetany* etc+
4enal osteodystro!hy' lo(/n> serum ca* incr+ serum phosphorus* incr+ al? phos+
, !ypophosphaturia ::H hypocalcemia ::H incr0 P)' --H more )one turnover
, also lo( production o" 0*/4vitD (ith ?idney damage
DD5 o" ric?ets' Sch#id #eta!hyseal dys!lasia 6aut:dom* short stature* )o(ing legs* (addling
gait7
25
, irregular long )one mineraliRation )ut normal Ca/phos/al? phos levels+
26
Co#!arison of CaPhosP)' disorders
Ca Pho
s
P)' 1ther
Vita#in-D
resistant ric@ets
N% %ow N>
Genetic pro)lem in tubular reabsor!tion of
!hos!hate E pee it out* lo( in )lood. also
a)normal /4vitD:0*/4 convers+
Y-lin@ed do#inant 6"amily history o" "5* lo( )one
calcium density7
Pseudohy!o-
!arathyroidis#
%ow 'i"h '=*'
%F% Albri"ht hereditary osteodystro!hy* li?e
hypoparathyrodism (ith high #8!+ %lso obesity+
brachydactaly o" 3th5th di"its* cataracts*
calciFcations in brain 6periventricular & in )asal
ganglia7
1steo"enesis
=#!erfecta
N% N%
)lue sclera* easily )ro?en )ones : a)normality in
production & composition o" bone #atri( (ith
normal ca/phos
'y!o!arathyrodi
s#
%ow 'i"h %1:
unusual outside o" neonatal period : lo( #8! ::H
reduced )one resorption* reduced e5cretion o" phos
& reduced 0*/4vitD "ormation in pro5 tu)ule E low
Ca+ 'i"h !hos+ Can see nu#bness+ tin"lin"+
sei9uers tetany
&edullary thryoid
Ca
N> N> N>
&8C may ma?e calcitonin )ut nor#al
ca!hosP)' unless E,N ty!e == 6(ith associated
hyperparathyroidism7
=ntussusce!tion'
, 6)ilious7 e#esis T inter#ittent abdo#inal !ain* )loody stools 6currant 6elly E late
@nding7* ?id draws u! @nees in pain+
, classically sausa"e-sha!ed tubular #ass on e5am* o"ten (ith lead !oint 6lymphoma*
mec?elPs diverticulum* etc7 around ileocecal valve
, get air contrast ene#a "or d5 / t5
Ealrotationvolvulus' thin? a)out in neonates with bilious e#esis /// o)struction+
, I" prolonged* can have necrotic bowel - #elenahe#atoche9ia+ !eritonitis+ acidosis+
se!sis
, Ealrotation' incomplete intestinal rotation in @rst trimester
X >igament o" treitR : usually @5es duodenoJeJunal Junction to > spine. here* ligament
on $ side* small )it o" mesentary can )e a5is "or gut to turn around
, Volvulus' mesentary t(ists around small intestine ::H decreased per"usion* ischemia*
necrosis
X Classic @ndings' cor@screw !attern o" duodenum 6)arium going through t(isted
portion* loo?s li?e cor?scre(7* or ;birdDs bea@- o" /nd/Ird duodenal portions+ Get
u!!er *= series to evaluate+
X $eDuires e#er"ent sur"ical intervention a"ter $uid status evaluated & @5ed i"
27
neded+
\ %lso !lace N* tube to deco#!ressG "et c( and initiate =V ab(
6sepsis (or?up7
\ Surgery' get an a!!endecto#y & F( bowel to abdo#inal wall
Pyloric stenosis' increasin" !ro6ectile e#esis 6non)ilious7 (ith olive sha!ed abdo#inal
#ass* visi)le peristaltic (aves. la)s have hy!ochlore#ic #etabolic al@alosis
, K5 more common in #ales+ 1st born ?ids. presents in 2rd-Sth w@ life0 %ssociated (ith
erythro#ycin0
, d(8 can con@rm (ith abd 5S0 pper GI sho(s ;strin" si"n- 6thin line o" contrast going
through stenosis7
, 8reatment' N* !lace#ent. correct dehydration / al?alosis / etc+ Pyloro#yoto#y (hen
sta)le+
A!!endicitis' classically abdo#inal !ain follo#ed )y nausea vo#itin". perium)ilical to $>Y
migration
&loody e#esis' thin? a)out &:< tears* NS%IDs* liver dR. also thin? 6uice+ beets+ red 6ello+
liJuid #eds
&lac@ stool' thin? a)out diarrhea* constipation / tears* etc. also thin? .e in"estion+ bis#uth+
blac@berries
*astric lava"e can help determine i" upper GI & )ris? 6pro5 to ligament o" 8reitR7 or lo(er GI in
)loody stools+
Classic Fndin"s for abdo#inal !ain <infants+ youn" @ids/8
Condition Si"ns+ s(
Abdo#inal
#i"raines
$ecurrent a)d pain (ith emesis
A!!endicitis $>Y pain (ith guarding & re)ound
&acterial
enterocolitis
Diarrhea 6-/: )loody7* "ever* vomiting
Cholecystitis $Y pain
Diabetes #ellitus #olys - (eight loss
'SP #urpuric lesions* Joint pain* )lood in urine* guiac - stools
'e!atitis $Y pain & Jaundice
=ncarcerated
in"uinal hernia
Inguinal mass* lo(er a)d / groin pain* emesis
=ntussuce!tion Colic?y a)dominal pain* currant Jelly stools
Ealrotation with
volvulus
%)d distention* )ilious vomiting* )lood per rectum* presenting in in"ancy
Ne!hrolithiasis !ematuria* colic?y a)dominal pain
28
Pancreatitis Severe epigastric a)d pain (ith "ever* persistent vomiting
PNA Fever* cough* rales
S&1 Emesis* o"ten h5 prior a)dominal surgery
Stre! !haryn"itis Fever* sore throat* headache
)esticular torsion 8esticular pain* edema
5rinary tract
infection
Fever* vomiting* diarrhea in in"ants. )ac? pain in older ?ids

)racheo-eso!ha"eal Fstula'
, most commonly involves eso!ha"eal atresia 6)lind pouch7 (ith esophagus coming of o"
trachea pro5imal to ?arina+ %ssociated (ith VA),4 69erte)ral a)normalities* %nal
a)normalities* 8:E @stula* $adial/$enal anomalies7. Di*eor"e syndrome 69SD* great vessel
pro)lems* esophageal atresia* )i@d uvula* etc7+
, D5' Polyhydra#nios in utero+ %"ter )irth' failure to !ass oro"astric tube in a
ne()orn (hoPs cho?ing. see coiled tube on @lm+ %t ris? "or aspiration 6suction constantly
(hile a(aiting surgery7
X '-ty!e 8EF can present later 6several #onths o" age (ith recurrent as!iration
PNA/
X Can also see (ith #odiFed bariu# swallow (ith ;uoro
,osino!hilic eso!ha"itis' intermittent vo#itin"+ dys!ha"ia+ e!i"astric !ain. "ood getting
Bstuc?T* no help "rom acid )loc?ade 6vs GE$D7+
, ,osino!hils on )iopsy+ Can have ato!ic food aller"y h(+ 4( (ith corticosteroids+
Pe!tic ulcer disease' ?id (ith .'( P5D or #D s5* nocturnal abd !ain+ *= bleedin" 6pain
V0 s57
, Get u!!er *= endosco!y
, 8est "or '0 !ylori 6e+g+ urea )reath test7* treat (ith acid bloc@ade ab( tri!le thera!y
'irsch!run"' suspect in children (ith intractable chronic consti!ation (ithout "ecal soiling
, Neonatal h5 delayed !assa"e of #econiu# : can have distention* N/9
, %lso at ris? o" developing enterocolitis+
, G5' increased acetylcholinesterase+ absence o" "an"lia cells0
X %lso have failure of internal s!hincter to rela( (ith balloon distention of the
rectu# on anal manometry+ Can see transition 9one on contrast ene#a
6dilated pro5imal )o(el. a)normally narro( distal segment (hich is aganglionic7+
, 85' sur"ery 6colostomy* pull:through7
, 9s "unctional constipation (here you more o"ten see over;o( diarrhea
Eec@el diverticulu#' !ainless rectal bleedin" in Frst 2 years of life
, remnant o" the vitilline duct 6connects yol? sac / intestine. here stays as diverticulum
connected to ileum7
, 0+42 o" population has it* )ut rarely causes symptoms
, I" symptomatic* usually has acid-secretin" "astric #ucosa in lining. can lead to
ulcerations+ bleedin"+ diverticulitis+ rarely !erforation or can undergo eversion
29
intussuce!tion
, D5 (ith )ec-OO scan 6la)els gastric mucosa7* @5 (ith sur"ical e(cision+
1verwei"ht Syndro#es'
, Prader-:illi' hy!otonia+ hy!o"onadis#+ hy!er!ha"ia a"ter ne()orn period* E4+
obesity
X deletion in Paternal chromosome 15+ >ittle in utero movement+
X hy!otonic as neonates and can initially have F88 / "eeding pro)lems
, %aurence-Eoon-&iedel <&ardet-&iedel7' aut-rec trait* obesity+ E4+ hy!o"onadis#+
!olydactyly+ retinitis !i"#entosa (ith ni"ht blindness
, .rohlich syndro#e' childhood o)esity associated (ith hy!othala#ic tu#or
*55rinary
%abial adhesions' )enign condition* "used la)ia maJora* common in !readolescent 6lo(
estrogen7 girls
, Can cause urine pooling : increased 5)= "reDuency
, <ill resolve (ith !uberty estro"en* )ut can also apply estro"en crea# ( 1 wee@ to
help resolve+
Non-s!eciFc vulvova"initis' )ro(n* green discharge* malodorous* )urning (ith urination E
urine on irritated s?in
, Chec? "or bubble baths+ ti"ht Fttin" clothes+ !erfu#ed lotions used in vaginal area*
i#!ro!er toilet habits 6(iping to(ard vagina7
.ores@ins I stu>
, adhesions between "lans !re!uce lyse (ithin @rst I years o" li"e in ^12* glans
e5posed
X Can see cellular debris 6(hite7 under "ores?in* not abnor#al+ no t( needed
, Phis#osis E ina)ility to retract "ores?in+ #hysiologic in @rst years o" li"e+ %"ter age I*
pathologic
, Para!his#osis E painful* fores@in gets retracted* trapped )ehind glans ::H edema*
venous congestion ::H canPt get it )ac? into place=
'y!os!adius' Dont circumcise= 8hey might need that tissue "or repair+
Cry!torchidis#' increased ris? o" malignancy+ %/< in"uinal hernias too
, S!ontaneous descent unli@ely a"ter 2 #o o" age 6operate )t(n M:0/mo7+ Gring it do(n
& @5 it in place 6orchi!le(y7 "or easier e5ams* also reduces ris? o" torsion 6high i"
;oating around in a)domen=7+ )ut doesnPt decrease ris? o" malignancy+
)esticular torsion' Causes #a6ority of acute scrotal !ain swellin" in boys L 12 years0
8esticle is elevated? sually unilateralG can wa@e child fro# slee! cause NV0
, &ell-cla!!er defor#ity' mo)ile testis 6posterior attachment to tunica vaginalis missing+
, Get sur"ical consult ri"ht away? DonPt mess around (ith delay "or doppler 6need to get
in there & @5 it=7 : get do!!ler later (hile (aiting "or surgical consult to come through+
8ry to #anually detorse <o!en boo@7 in ED also (hile (aiting+
30
, &lue dot si"n on upper aspect o" scrotum (ith nor#al cre#asteric re$e( suggests
torsion of a!!endi( testes 6)ut should use /S (ith doppler to r/o testicular torsion7+
'ydrocoele' Fluid @lled sac in scrotal cavity+ $emannt o" !rocessus va"inalis+ &ay )e
communicating (ith periotoneal cavity : in (hich case you need to @5. o/( involute on their o(n+
Varicocele' common* seen a"ter 10 years of a"e+ ;ba" of wor#s- a)ove non-tender testis
, "rom dilated vv o" !a#!inifor# venous !le(us 6usually on left side/ "rom
inco#!etent valve of s!er#atic vein0 Can cause reduced s!er# counts. may need
sur"ery i" in"ertility pro)lems
, diagnosis usually doesnPt need Doppler* can "eel )ag o" (orms and then reassure
educate unless pro)s+
,!ididy#itis' see redness+ war#th+ scrotal swellin" )ut !reserved cre#asteric re$e(+
#ain usually !osterior 6over epididymis7+ 9s torsion* here the testicle is not elevated
'e#atolo"y
Ane#ia
Physiolo"ic ane#ia' nadir at B w@s o" age in preemie* 2-2 #o in ter# infant
Eicrocytic ane#ia (ith decreased 4&C !roduction' impaired heme or glo)in production=
, thalasse#ias+ iron deFciency* some ane#ia of chronic disease 6all hypochromic
too7+ Occasionally lead !oisonin" can do it too
, =ron deFciency ane#ia' lo( iron* high 8IGC* lo( "erritin
X I" iron deFcient : give oral iron 6pre"erred "orm7
, Ane#ia of chronic disease in$a##ation' lo( iron* lo( 8IGC* high "erritin
, )halasse#ias'
X Al!ha-thal' can )e cis or trans 6alpha deletions on one : cis : or )oth : trans :
genes7+ 8hin? S, Asia+ #editerranean+ etc0
\ I" homoRygous 6all "our7* then 'b &art 6K gammas* hydrops "etalis7 :
more common in SE asia )ecause o" more cis mutations+
\ I" I mutations* 'b' disease 6K G chains7 a"ter @rst "e( months o" li"e+
\ i" / mutations* al!ha-thal #inor 6a little e5tra !)%/* !)F7
\ i" 0 mutation* silent carrier
X &eta-thal' deletions o" )eta gene+
\ i" homoRygous* beta-thal #a6or 6severe hemolytic anemia*
splenomegaly* "rontal )ossing* prominent chee?)ones* F88* etc. death i" not
transfused a lot : )ut that has its o(n )ad parts* li?e iron overload7+
\ I" heteroRygous* beta-thal #inor 6hypochromia* microcytosis* )ut not
really )ad anemia. elevation o" !)%/ level7+
Nor#ocytic ane#ia (ith decreased red cell !roduction' )one marro( not ma?ing $GC
, )ransient erythroblasto!enia of childhood' acDuired pure red cell aplasia* usually
preceded )y viral in"ection* normocytic anemia+ S5P after 1 year of a"e 6vs diamond
31
)lac?"an or physiologic nadir7+
X Gradual onset o" pallor over (ee?s+ Normal peripheral smear e5cept "or
reticulocytopenia+
X 'b is usually at nadir at d5 time+ Only trans"use i" C!F developing
, %lso on dd5' Parvovirus &1O-induced a!lastic ane#ia+ dru" to( "rom
#yelosu!!ressive a"ents* or acute blood loss+ ane#ia of chronic disease can also
)e normocytic+
Nor#ocytic ane#ia (ith increased red cell !roduction8 most o"ten he#olytic
A ,(tracor!uscular' e5trinsic to red cell
W =soi##une' %) "rom one individual destroying $GC o" another+ A&1#inor A"
inco#!atibility
W Autoi##une' idiopathic* postin"ectious 6Eyco!las#a !neu#oniae+ ,&V/* drug:
induced 6PCN+ Juinidine+ al!ha-#ethyldo!a7* or chronic autoimmune dR 6S%,/
or malinancy 6N!>7
W 8he anti)odies "or either o" the a)ove can )e+++
\ :ar#-reactin" ="*8 war# (eather is *reatG @5 cP )ut donPt activate
the (hole (ay* so removed e(travascularly in 4,S0 Id (ith Direct Coom)s
\ Cold-reactin" ="E8 EEE - Cold ice cream. intravascular
hemolysis since can @5 CP the (hole (ay+ Especially (ith #yco!las#a+ ,&V+
transfusion r5ns
W Non-i##une' #icroan"io!athic 6DIC* 88# / !S* malignant !8N* etc7 or "rom
artiFcial valves+ AVEs+ hy!ers!lenis#+ to(ins 6sna?e venom* copper* arsenic7*
malaria* )urns+
A =ntracor!uscular8 mem)rane de"ect
W 'ereditary s!herocytosis8 Aut-do# de"ect in an@yrin+ s!ectrin proteins that
support mem)rane+ microspherocytes+ Destroyed in microvasculature o" spleen+
\ #ositive os#otic fra"ility test and uncon6u"ated
hy!erbilirubine#ia+
\ S5' Can range "rom as5 to chronic trans"usion reDuirement+
*allstones+ cholycystitis* s!leno#e"aly* pallor common+ Suscepti)le to
aplastic crisis+
\ 85' folic acid su!!le#entation 6ma?ing lots o" $GC=7* trans"usion as
needed* s!lenecto#y a"ter M y/o
W Sic@le cell disease' 9al "or glutamate in Mth %% o" )eta:glo)in chain+
\ D5 (ith !) electrophoresis+
\ =nfancy' !allor+ 6aundice+ s!leno#e"aly* systolic eJection murmur+
Dactylitis 6avascular necrosis o" &C#/metatarsal )ones* pain"ul7 at 3-B #o
of a"e+
\ Childhood' delayed se5ual development* s!lenic seJuestration+
a!lastic hy!erhe#olytic crises* auto-infarction o" spleen eventually+
Pria!is# in ages M:/1+
\ Adolescence' avascular necrosis o" "emoral head+
\ 9aso:occlusive crises too. can decrease (ith hydro(yurea thera!y+
Acute chest syndro#e* stro@es are other serious seDuelae
W *BPD' C:lin?ed recessive+ &utation in he(ose #ono!hos!hate shunt path(ay.
32
deplete N%D#! and canPt regenerate reduced glutathione / protect $GC "rom
o5idative stress+ %% / &editerraneans+
\ 1(idative stress 6sul"onamides* nitro"urantoin* primaDuine*
dimercaprol7 ::H glo)in precipitates as 'ein9 bodies* damaged cells
removed )y 4,S / bite cells can "orm as heinR )odies eaten )y $ES cells+
\ Classic pres' e!isodic+ stress dru" induced he#olytic ane#ia+
\ D5' deFcient NADP' for#ation on *BPD assay* )ut (ait til acute
hemolysis is done 6most o" de@cient cells have )een destroyed ::H can give
"alse:normal result=7
\ 85' avoid dru"s that induce he#olysis* trans"use* hydrate during
crisis
Ee"aloblastic #acrocytic ane#ia (ith decreased $GC production
, &12 deFciency' G0/ "ound in @sh* meat* cheese* eggs+ Com)ines (ith IF "rmo gastric
parietal cells* a)sor)ed in terminal ileum+ Can )e due to dietary deFciency 6rare e5cept
"or in )reast:"ed )a)ies o" vegan moms7* con"enital or 6uvenile !ernicious ane#ia 6IF
de@ciency7* ileal resection+ s#all bowel over"rowth+ Di!hyllobthriu# latu# 6@sh
tape(orm7+
X *lossitis+ diarrhea+ wei"ht lossG !aresthesias+ !eri!heral neuro!athies+
!ost0 colu#n de"eneration* dementia* ata5ia. also vitiligo+ See
hy!erse"#ented PENs* ho(ell:Jolly )odies* nucleated $GC* megalo)lastic $GC+
X D5 (ith low &12G can diferentiate cause (ith Schillin" test
X 8reat (ith #onthly =E &12 6should see reticulocytes (ithin I days* anemia )etter
in 0:/ mo7
, .olate deFciency8 "ound in liver+ "reen ve""ies+ cereal+ #eatcheese (ith small
stores 6can get de@cient in 0 month7+ InadeDuate inta?e 6"oatDs #il@+ eva!orated #il@+
heat-sterili9ed #il@/* impaired a)sorption 66e6uanal processes : IGD* celiac7* increased
demand 6hypethyroid* pregnancy* malignancy7* dru"s 6phenytoin* pheno)ar)7
X Glossitis* pallor* malaise* )ut no neuro deFcits+ >o( $GC "olate* normal G0/+
Same changes as G0/ on peripheral smear+
X 8reat (ith folate 1#" P1 ( 1-2 #o (ith rapid clinical response : note that "olate
(ill correct the anemia o" G0/ de@ciency* )ut (onPt @5 neuro pro)lems=
Ee"aloblastic #acrocytic ane#ias
, Dia#ond-&lac@fan Syndro#e' congenital !ure red blood cell a!lasia* aut rec or aut
dom
X %nemia shortly a"ter )irth* macrocytic (ith reticulocytopenia+
X See elevated 'b.+ fetal i anti"en on 4&C+
X %lso a/( short stature+ web nec@+ cleft li!+ shield chest+ tri!halan"eal
thu#b 6?ind o" reminiscent o" 8urner syndrome7+
X 85' hi"h dose corticosteroids 6inde@nitely7 : Q42 respond* others need "reDuent
trans"usions+ Some can have &E) "rom matched si)ling donors
, Severe a!lastic ane#ia' chemicals 6chloramphenicol7* hepatitis virus* ioniRing radiation*
idiopathic
X Need &E) fro# #atched siblin"+ &ight )e a)le to use antithymocyte /
lymphocyte glo)ulin* corticosteroids* G:CSF "or some+
, .anconi Ane#ia' aut:rec disorder+ 8ypical presentation ] Syo (ith !ro"ressive
33
!ancyto!enia
X %/( pigmentary changes 6cafe-au-lait/* s?eletal 6microcephaly7 / renal /
developmental a)normalities* absent thu#bs+ horseshoe absent @idney
X De"ect in DN% repair ::H too many )rea?s / recom)inations+ Increased ris? o"
leu@e#ias
X Eacrocytic ane#ia+ Can d5 (ith increased chro#oso#al brea@a"e (ith
e5posure to diepo5y)utane 6D,&7 : damages DN%+
X 85' need $GC trans"usion* a)5 to treat anemia / in"ections* corticosteroids+ &E) is
)est i" possi)le* )ut donDt really blast with che#o radiation doses 6canPt
repair=7
Characteristic s#ear Fndin"s
, 'owell-Nolly bodies : seen in as!lenic !atients 6small )its o" nuclear renmants in
nucleus7
, )ar"et cells : seen in al!ha-thal+ 'bC disease+ liver disease 6too much mem)rane.
resistant to osmotic "ragility
, S!herocytes : seen in hereditary s!herocytosis. "ragile* can use os#otic fra"ility
test
X Fids are ane#ic (ith hy!erbilirubine#ia I reticulocytosis* or can present in
adult hood (ith symptoms+ 'e!atos!leno#e"aly I "all bladder d9 most
common s5 a"ter in"ancy+
&abies with ane#ia
, .eto#aternal transfusion' consider in @ids who are ane#ic shortly after birth (ith
no 4h or A&1 inco#!atibility (ith mom* as (ell as nor#al reticulocyte count+ Can
do Fleihauer:Get?e stain "or "etal hemoglo)in:containing GCs in momPs )lood to diagnose
, Physiolo"ic ane#ia of infancy' erythropoesis ceases a"ter )irth. 'b values decline*
nadir at B-S wee@s
, =ron deFciency' consider in term in"ant )et(een O-23 #onths 6iron stores "rom
circulating hemoglo)in e5hausted. sho(s up no( i" no good iron source provided7+
, Sic@le cell ane#ia' usually 3-B #onths 6(hen fetal 'b pretty much all replaced )y
adult sic@le 'b7
)hro#bocyto!enia
, Can see (ith I8# 6)elo(7
, '=V+ ,&V in"ection can cause
, Dru"s' #CNs* 8&#:S&C* dig* Duinines* cimetidine* )enRos* heparin. also &&$ vaccine+
, Neonatal isoi##une thro#bocyto!enic !ur!ura' &omPs IgGs can cross placenta*
destroy "etal platelets ::H treat (ith IvIg / corticosteroids a"ter )irth until maternal a)
disappear+
, ))P' lac? o" ADAE)S 12 6v<F:cleaving protease7 ::H )ig* multimeric v<F "orms ::H
increased platelet aggregation* throm)ocytopenia+ also he#olytic ane#ia+ fever+ renal
involve#ent+ neuro !roble#s
, '5S' a"ter Shigella or E+ coli O04Q'!Q : #icroan"io!athic he#olytic ane#ia+ renal
cortical in6ury+ thro#bocyto!enia "rom platelet adhesion to inJured vascular
34
endothelium. may need temp dialysis
=##une )hro#bocyto!enic Pur!ura'
A 1ften !ost-viral* can also )e due to &&$ va5* drugs* !I9+ 8hin? !etichiae in well-
a!!earin" @id (ith recent febrile illness 6!S#' sic? loo?ing=7
A !lt K 20+000* bruisin" !etichiae #5o hepatosplenomeg / >N involvement+
A >a)s' "et a blood s#ear+ On CGC* !)* hct* ()c* dif are normal
A &ost serious complication E intracranial he#orrha"e 6)ut rare7.
A 8reatment is controversial 6no good improved otucomes7* )ut may use I9IG to decrease
platelet destruction* I9:anti:D therapy* /:I (?s o" systemic corticosteroids+ s!lenecto#y
i" serious complications 6)ut then no spleen E more in"ections E need pneumova5* #CN
pp57
)hro#bocyto!enia-absent-radius' )hro#bocyto!enia* )ilateral absence o" radius*
abnor#ally sha!ed thu#bs. can have )1.ASD. K12 die "rom )leeding "rom lo( platelets in
neonatal period+
Coa"ulation cascade defects
'e#o!hilias' indistinguisha)le clinically+ Severity depends on degree o" "actor de@ciency+ &ild
64:K^2 normal "actor7 E need signi@cant trauma "or )leeding. moderate 60:427 reDuire moderate
trauma. severe 63027 have spontaneous )leeding+ he#arthroses are sterotypical+ Give
factor concentrates* )ut can develop inhibitors 6IgG against trans"used "actors* ma?es
treatment di_cult7+ + Goth (-lin@ed rec0
, 'e#o!hilia A' Factor 9III de@ciency* can use DDAVP 6releases "actor 9III "rom
endothelial cells7
, 'e#o!hilia &8 Factor IC de@ciency* DD%9# has no efect
Von :illebrand Disease' de@ciency o" v<F. )oth connects su)endothelial collagen to
activated platelets & )inds to circulating "actor 9II* protecting it "rom clearance+ &ultiple types+
, >oo?s li?e thro#bocyto!enia 6mucocutaneous )leeding* epista5is* gingival )leeding*
cutaneous )ruising* menorrhagia7 )ut also low factor V=== 6P)) and bleedin" ti#e are
$oth a)normally long7
, 4istocetin cofactor assay good "or "unction* also P.A-100 6platelet "5n analyRer7
, se DDAVP to simulate v<F release "rom endothelial cells. may also need cryoprecipitate
6)ut canPt )e virally attenuated* so give !G9 va5 @rst7
Vita#in 7 deFciency' II* 9II* IC* C and proteins C/S need vitamin F+
, Cystic Fbrosis or ab(-induced su!!ression of intestinal bacteria 6(hich produce
vitamin F7
, 'e#orrha"ic disease of the newborn can happen i" no I& vitamin F given at )irth
Coa"ulo!athies' .actor V %eiden+ !rothro#bin 20210A+ !rotein CS deFciencies
increase throm)osis ris?
Naundice I bilirubin
Neonatal 6aundice' "or "ull:term in"ants* pea?s at 5-B #"d% )bili )et(een 2nd and 3th days
35
o" li"e
, I" in 0st /Kh* wor@ u!8 erythro)lastosis "etalis* hemorrhage* sepsis* C&9* ru)ella*
congenital to5o
, Can cause @ernicterus i" uncon6 bili too high
X sepsis:li?e s5* apsphy5ia* hypoglycemia* intercranial hemorrhage
X Deposits in )asal ganglia. increased in immature / sic@ infants* also (ith SEY
6displace "rom al)7* acidosis 6reduces )iliru)in )inding7* se!sis 6)lood:)rain )arrier
more permea)le7* hy!oalbu#ine#ia 6less al)umin to )ind7
, Photothera!y converts uncon6 bili into e(tractable for#+
X I" no hemolysis* phototherapy "or 8)ili 0M:0U A /K:Q/h* 8)ili H/1 at HQ/h
X DonPt do phototherapy "or con6u"ated hy!erbili 6(ill bron9e the s@in & not
help7+
, ,(chan"e transfusion rarely needed 6i" no response to conservative measures7
, se no#o"ra#s ris@ stratiFcation curves to guide therapy+
&reastfeedin" Naundice' mani"ests in Frst wee@ of life 6K:Qd7
, caused )y insuXcient !roduction or inta@e o" breast #il@ ::H not enough stimulation
o" )o(el movements to remove )iliru)in "rom )ody
&reast Eil@ Naundice' /2 )reast "ed "ull:term in"ants get high 6up to I1 mg/d>7 uncon6 bili
levels
, !appens after Vth day of lifeG (ill decrease gradually i" )reast "eeding continued
, can also pause )reast mil? "or 0/:/Kh 6Duic? lo(ering o" )ili7* then restart )reast "eeding
,rythroblastosis fetalis ' increased $GC destruction "rom transplacental maternal %) against
in"ant $GCs
, #resents (ithin 0st /Kh. direct Coom)Ps positive
*ilbertDs syndro#e' negative coom)Ps* n>/lo( !)* n>/high retic* hyper)iliru)inemia*
uncon6u"ated hy!erbili
Cri"ler-Na66ar' de@ciency o" D# glucuronyosyltrans"erase 6severe de@ciency E canPt conJ E
hi"h uncon6 bili/
Con6u"ated bili' i" high* thin? obstruction of biliary tree 6e+g+ choledochal cyst7+
, Could also )e biliary atresia or other things that inter"ere (ith e(cretion
Necroti9in" enterocolitis' transluminal* mucosal necrosis in !re#ature infantsG sporadic
usually
, Pneu#atosis intestinalis on %C$ 6)acterial gas production in )o(el (all7 is
!atho"no#onic
, 4:012 o" 9>G< )a)ies+ See feedin" intolerance (ith bilious as!irates+ abd
distention* )lood / heme- stool* can end up in shoc?= >eu?ocytosis* neutropenia*
throm)ocytopenia* met acidosis too+
, 85' discontinue feeds & !lace an N* tube to suction+ Give syste#ic ab( I send c(+
Get JBh AY4 to monitor "or pneumotosis* "ree air+ Give =V. "or shoc?+
, <ill need sur"ery i" "ree air seen or necrosis suspected+ I" not* 13d bowel rest & broad
ab(+
36
=##unolo"y
=##unodeFciencies
Chronic
"ranulo#atous
d9
#oor supero5ide
generation
Neutrophils* monocytes canPt ?ill sta!h aureus+
candida+ as!er"illus 6produce catalase7 and *N4s :
recurrent in"ections (ith those organisms+
Get N&) <nitroblue tetra9oliu#7 test+
Give daily )EP-SEY & "a##a-interferon !!(
%eu@ocyte
adhesion
deFciency
Disorder o"
leu?ocyte
chemota5is*
adherence
$ecurrent sino!ul#onary+ oro!haryn"eal+
cutaneous in"ections 6Staph* Entero)acteriacea*
Candida7+ Delayed (ound healing+ .ailure of
u#bilical cord to se!arate+ Neutro!hilia 6H41?7+
SC=D
%ut:rec or C:
lin?ed
&oth humoral &
cellular
immunodec+
Decr+ seru# ="+ )-cells0 )hy#ic dys"enesis
$ecurrent cutaneous* GI* pulm in"ections (ith
o!!ortunists 6C&9* #C#* "ungi7+ Death in @rst 0/:/K
mo unless &E) per"ormed
Di*eor"e
//D00
microdeletion
Decreased )-
cell production
$ecurrent in"ections 68:cell' thin? !I9 type in"ections7
%lso velocardiofacial mani"estations' a)normal facies
6(ide:set eyes* prominent nose* small mandi)le7* cleft
!alate+ VSD / tetFal+
)hy#ic / !arathyroid dysgenesis E hy!ocalce#ia*
seiRures+ CA)C'-22 6cardiac* a)normal "acies* thymic
hypoplasia* cle"t palate* hypocalcemia on chromosome
//7
:is@ott
Aldrich
poor %)
response to
capsular
polysaccharides*
8:cell
dys"unction
6co#bined
&I)/
Y-lin@ed rec (ith increases in serum ="A+ =",
Classic triad8
10 )hro#bocyto!enia 604:I1? (ith small plts7
20 ,c9e#a
20 4ecurrent infections <Pneu#ococcal otitis
media* PNA "rom poor %) response to capsular
polysacch. fun"al / viral )y )-cell dys"unction7
Y%A ' C:lin?ed
agammaglo)uline
mia 6 &rutonDs 7
#rimary &-cell
deFciency 6all I
classes o" %)
decreased7
#resents after 2 #onths o" age 6momPs %) go a(ay7
4ecurrent / si#ultaneous )outs o" otitis media*
PNA* diarrhea* sinusitis at diferent sites )ut not
"ungal or viral in"ections
Co##on
Variable
i##unodeFcien
cy
'u#oral &-
cell
'y!o"a##a"lobuline#ia 6lo( ="A* ="*7. inherited
disorder. less severe in"ections than C>%
Selective ="A
deFciency
'u#oral Eildest* most co##on immunode@ciency+ Normal
levels o" other anti)ody classes+ viral response OF )ut
37
suscepti)le to bacterial infections of res!+ *=+
urinary tracts
Nob syndro#e
disorder o"
!ha"ocytic
che#ota(is
Elevated =",* ec9e#a-li@e rash* recurrent* severe
sta!h in"ections
Ata(ia-
telan"iectasia
varia)le
humoral & C&I
de"ects
i##unodeFciency+ cerebellar ata(ia+
oculocutaneous telan"iectasia : most pts (heelchair
)ound )y pu)erty* die prematurely
Co#!le#ent
de@ciency
C5-CS 6terminal
CP7 is classic
"orm
N0 #enin"itidis infections?
%lso higher ris? o" rheu#atolo"ic disease
)estin"8
, assess &-cell function )y loo?ing at Ab titers against tetanus+ di!theria+
!neu#ococcus a"ter va5
, assess )-cell function )y loo?ing at D)' reaction
, la) testing too "or titers* cell sorting* etc
Dru" eru!tions
Eorbillifor#
#aculo!a!ular* coalescing
rash* especially truncal /
centripetal
)y!e =V V
hypersensitivit
y
6not
immediate7
e+g+ a#o( aller"y* also a"ter
adeno+ ,&V* other viruses
)(8 Sto! ab(+ can give
antihista#ines i" reDuired
5rticarial
=##ediate erythe#a*
vasodilation* raised
lesions (ith central
clearing & ser!i"inous
border* dermographia*
transient evanescent
6gone in I1m7* #ove
around
)y!e =
hypersensitivit
y 6mast cells*
histamine
release7
e+g+ i##ediate dru"
eru!tions* can also )e viral 6&
last "or (ee?s=7+ Food* ne(
e5posures are less common
85' stop a)5* antihista#ines
,rythe#a
#ultifor#e
Fi5ed* tar"etoid* acral
lesions. center can loo?
necrotic+ Pal#s soles
too* can have arthral"ias0
V-10d a"ter e5posure 6not
immediate7
)y!e ===
hypersensitivit
y 6anti)odies=7
Can also )e
"rom 'SV
Can deposit in Joints* (onPt
(al?
;Seru# sic@ness- is a more
systemic "orm
SNS),N
Gig bullae* )ig* ;at
#acular lesions* then
bullae+ involves #ucous
#e#branes
%nti)ody
independent
SNS i" 3 10P )ody sur"ace*
;overla!- i" 01:I12* ),N i" H
20P
Dru"s can trigger* also
#yco!las#a
D4,SS Dru" eru!tion with %y#!hocytic U:012 mortality+ Give steroids+
38
eosino!hilia I syste#ic
s(
#apular* "ollicular rash.
eosinophila* leu?openia. can
get hepatitis* pneumonitis*
lea@y ca!illaries --L
ede#a
mediators
=V=*
''V-B+ sulfona#ides ?ey
'y!ersensitivity
A )y!e =8 anaphylactic reactions+ O"ten IgE mediated+ Gasophils* vasoactive su)stances li?e
histamine* etc+
A )y!e ==8 %):mediated cellular cytoto5icity
A )y!e ===8 Immune comple5es
A )y!e =V8 D8! 68:cell mediated7+ S?in tests 6#CN* cara)apenems7* etc+
Ana!hyla(is'
, I" voice is changing* worry about the airway? Esta)lish the %GCs )e"ore everything
else=
, Then consider su)Y epinephrine* diphenhydramine* etc+
'ereditary an"ioede#a' usually inherited C1 esterase inhibitor de@ciency+
Aller"ic rhinitis' usually doesnPt present til 5-B years old 6i" younger* thin? infectious
rhinitis / sinusitis7
=nfectious Disease
S)=s
5rethritis8
A *onoccocal urethritis' a BdripT : dysuria* mucopurulent urethral discharge*
oropharyn5/s?in too
W /:4 days incu)+ D5 (ith urine PC4 or c5 on 8hayer:&artin agar. can also s(a)
, 8reat (ith =E ceftria(one ( 1 or oral ce@5ime
, Chla#ydia urethritis' a BdripT : dysuria* mucoid discharge. d5 )y #C$* 4:01 day incu)+
, Other non:gonoccocal urethritis : ureaplasma* mycoplasma genitalium
, 8reat (ith a9ithro#ycin ( 1 or 0 (ee? o" do5y / eryrthro
, DD5'candidal balanitis 6uncirc )oy (ith (hitish overgro(th. r5 clotrimaRole topical7*
in$a#ed condylo#a
, $emem)er P=D after *Cchla# : "ever* cervical motion tenderness* lo(er a)d pain*
discharge* dysparenuria* irregular menstruation : consider in se(ually active wo#an
(ith adne(al or cervical tenderness+ fever+ dischar"e+ irregular periods* elevated
ES$/C$#
X )reat (ith ceftria(one (16GC7 T do(ycycline ( 13 or aRithromycin 6chlamydia7*
can also add clinda "or anaero)es
X .it9-'u"h-Curtis syndrome' ascending pelvic in;ammation o" liver ca!sule+
39
dia!hra"#+ #atient (ith 4%M and 45M pain 6over gall)ladder7 : #ID - liver
pro)lems
'PV' B+11 cause warts. 1B+1S cause cervical cancer
%*V' Painless "enital !a!ule ::H resolves ::H unilateral drainin" in"uinal
ly#!hadeno!athy
A caused )y C0 trach seroty!es. can )e culured. also serologic testing
Chancroid 6'0 ducreyi78 small papules on genitalia* perineum ::H pustular ::H erode ::H
ulcerate. at the sa#e ti#e 6not a"ter li?e >G97 develop !ainful tender in"uinal
ly#!hadeno!athy 6you Bdo cryT7
, Get PC4 or D.A0 !ard to culture. can use chocolate agar )ut only M42 sensitive
Sy!hilis' spirochete 8+ palladium* d5 (ith 4P4 VD4% 6)ut high "alse:pos7 con@rmed (ith .)A-
A&S
, Stage 08 !ri#ary sy!hilis + See chancre 6(ell demarcated* @rm* !ainless ulcer (ith
indurated )ase7+ !eals spontaneously (ithin I:M (?s 6may not see? medical attn7
, Stage /' secondary sy!hilis 60/I untreated pts7+ disse#ination ::H erythe#atous
rash on !al#s soles & condylo#a lata 6(art li?e lesions on genitals7
, Stage I' tertiary sy!hilis' "u##as 6granulmoatous lesions7 in s@in+ bone+ heart+ CNS
X )abes dorsalis & "eneral !aresis can occur* as can aortic aneurys# o" asc+
aorta+
, 8reat (ith !enicillin * 6I& or I97 "or any stage+
'SV' usually type /+ 4:0Kd incu)ation* then "enital burnin"+ itchin" --L vesicular+
!ustular lesions that )urst* !ainful shallow ulcers that heal (ithout scarring+ Can lay latent
in ganglia* recur+
, See "iant #ultinculeated cells on )9anc@ testin". also #C$ / DF% availa)le+
, 1ral acyclovir can diminish length o" s5 / shedding )ut dont eradicate. can )e used as
pp5 to reduce "reDuency o" recurrences )ut doesnt (or? as t5 o" recurrent episodes+
, Neonatal her!es' thin? vesicles on face+ ly#!hocytic #enin"itis 6red cells*
lymphocytes* protein elevated. glucose lo(:normal7+ thro#bocyto!enia (ith CNS
in"ection signs 6"ever* irriti)ility* etc7+ 'SV ence!halitis in neonates E difuse EEG
changes* o"ten serious neuro seDuelae 6maJority7* I12 mortality+
X &ore li?ely (ith !ri#ary #aternal 'SV infectionG most o"ten 'SV-2+
X Get CS. 'SV PC4 I treat (ith =V acyclovir+
X I" mom has h5 genital herpes* and i" prodromal s5 or herpetic lesions present at
la)or* do a C-section
X I" a neonate has rash c/( herpes* hos!itali9e= 6even i" in diaper area7
Va"inal infections'
, )richo#oniasis 68+ vaginalis7 : protoRoa : #alodorous frothy "ray dsichar"e* vaginal
dyscom"ort+ See tricho#onads on wet !re!+ 85 (ith #etronida9ole &=D ( V d along
(ith se5 partners
, &acterial va"inosis 6Gardnerella vaginalis* others7+ 8hin* white+ foul-s#ellin"
dischar"e that emits Fshy odor (hen mi5ed (ith FO! 6whi> test7+ Se5ually active
40
"emale* see clue cells on (et prep 6sDuamous epithelial cells (ith smudged )orders "rom
adherent )acteria7+ 85 (/ #etronida9ole &=D ( Vd
, Va"inal candidiasis' not an S8I. increased (ith a)5 use* pregnancy* dia)etes*
immunosuppresion* OC# use+ See yeast and pseudohyphae on (et prep / FO!. use oral
$ucona9ole or O8C anti"ungal creams+
41
Con"enital =nfections' )14C' 6)o5o* 1ther : 9b9 / syphilis* 4u)ella* Cytomegalovirus* 'S97
Features 8reatment Comments
CEV developmental delay* =5*4
6microcephaly7* cataracts* sei9ures*
he!atos!leno#e"aly* prolonged
neonatal Jaundice* !ur!ura at )irth+
!eriventricular )rain calci@cations+
[Gancyclovir 6not great
data7+ Get newborn
hearin" screen 6and
repeated evaluations7+
7ee! away fro#
!re"nant healthcare
wor@ers+
&ost common i"
!ri#ary CEV in"ection
in 1st tri#ester0 6In
reactivation* #aternal
="* crosses placenta /
protects )a)y7
)o(o Same as C&9* pretty much+ !yri#etha#ine I
sulfadia9ine. can use
corticosteroids "or
ocular* CNS dR as (ell+
)rain calci@cations
scattered throughout
ct5+ Only congenital i"
!ri#ary #aternal
infection 6cat feces*
undercoo?ed meat7
4ubella ,yes8 cataracts* retinopathy*
microphthalmia* glaucoma+ ,ars'
sensorineural hearing loss+ 'eart'
#D%* peripheral pulmonary artery
stenosis+ S@in8 blueberry #uXn
)a)y+ %lso IG$* hepatomegaly*
throm)ocytopenia* interstitial
pneumonitis* radiolucent )one dR
No s!eciFc antiviral
thera!y availa)le+
)a)ies contagious until 0
year o" age+
transplacental viral
transmission+ $are
6&&$ vaccine7+ DonDt
"ive EE4 vaccine
durin" !re"nancy
6very lo( ris? )ut can
get "etal dR7+
'SV Disseminated dR in multiple organs
6liver / lun"s7+ !S9:0' localiRed CNS
disease (/ or (/o s9. !S9:/' o"ten
s@in+ eyes+ #outh+
Acyclovir &ost !S9:/ 6re;ects
genital herpes rates7.
in"ected through vaginal
canal 6most is actually
perinatal7+
VUV Con"enital varicella syndro#e i" 3
/1 (?s7 : li#b hy!o!lasia+
cutaneous scarrin"+ eye / CNS
a)normalities
Neonatal chic@en!o( i" H /1 (?s'
"enerali9ed !ruritic vesicular
rash -: )act superin"ection* PNA+
CNS involvement 6cerebellar ata(ia
& encephalitis7* throm)ocytopenia
VU =*8 i##ediately
after delivery i" momPs
chic?en po5 starts win
5d of delivery* or
i##ediately on d( i"
chic?en po5 started
(ithin /d a"ter delivery+
Can give acyclovir ( 10
d i" acute varicella in 0st
(ee? o" li"e+
=solate i" neonatal
chic?enpo5 6not
congenital varicella
syndrome7+
Sy!hilis <ithin 0 month o" )irth'
hepatosplenomegaly* mucocutaneous
lesions* 6aundice+ %AD+ snu^es
6)loody* mucopurulent discharge7+
>onger:term seDuelae' saber shins+
anemia* throm)ocytopenia*
'utchinson teeth+ deafness+ E4+
Get an %P+ CS. VD4% to
diagnose* give
!arenteral !enicillin *
<=V or =E/
&om (ith untreated
in"ection ::H
transplacental in"ection+
&ost li?ely during 0st
year o" in"ection+ 412
die shortly )e"ore / a"ter
)irth
Also '=V8 remem)er to get PC4+ not relying on a) tests in ?ids (ho still have momPs IgG=+
*&S'
, ,arly' thin? PNA 6sepsis too7
42
, %ater8 thin? osteo#yelitis+ #enin"itis+ se!tic arthritis 6places (here it needs to seed
@rst=7
CA-E4SA treatment' )EP-SEY or Clinda i" H 4 cm. =ID and observe i" 3 4 cm
%y#e disease treatment'
, Do(y "or less severe mani"estations' acute arthritis* erythema migrans* "acial palsy*
peripheral neuropathy
, Ceftria(one "or severe mani"estations' #enin"itis+ carditis
.ood !oisonin"'
, S0 aureus8 i##ediate reaction to "ood
, Co(sac@ie' lesions in the oropharyn5
, &0 cereus' rice
, Adenovirus' i" respiratory s5 along (ith GI* conJunctivitis
, 4otavirus' should have )een e5posed )y /:I years old+ Can get really hi"h fevers+
febrile s9+
4ashes etc fro# infections
, Eeasles8 con;uent* erythematous* maculopapular* ;buc@et of !aint- rash 6head ::H
toes7 along (ith cory9a+ cou"h+ con6unctivitis+ 7o!li@ s!ots on )uccal mucosa+
X Complications include #N%* myocarditis* encephalitis* SS#E
, Eu#!s' No rash* )ut swollen salivary !arotid "lands+
X Complications' orchitis+ !ancreatitis+ more rarely #enin"itis+ ence!halitis
, 4ubella' sore throat+ cou"h+ lo(:grade fever* then s(ollen subocci!ital I !osterior
auricular ly#!h nodes and difuse sal#on-colored rash. tender s(elling o" #ulti!le
lar"e I s#all 6oints
X $ash loo?s li?e measles )ut doesnDt coalesce
, 4oseola' From ''V-B0 'i"h fever+ (hich then resolves* and #aculo!a!ular rash
appears+
X Can cause "e)rile seiRures in "ever stage+
, ,rythe#a infectiosu# 6B.ifth disease-* "rom !arvo &1O/+ ;sla!!ed chee@s- rash*
then reticular rash spreading out to e5tremities+
X Can cause transient a!lastic crisis in ?ids (ith !) pro)lems 6e+g+ SCD7+
, Varicella' dew dro!s on rose !etals* not on palms/soles 6can have some oral lesions7*
di>erent sta"es0
X Q:/0d incu)ation* #ost conta"ious 6ust before rash* isolate until all crusted
X Vaccine efective+ Can give acyclovir i" chronic !ul# d9+ L 12+ on salicylates
steroids
X 9s s#all!o(* (hich has sa#e-a"ed lesions
, 'and-foot-#outh' "rom co(sac@ie A1c+
X Incu)ation 3-Bd+ 1w@ rash+ 1-2d !rodro#e 6"ever* anore5ia* sore throat7
X 'er!an"ina : ulcerated vesicles on tongue* !osterior !haryn(
X Di>use vesicles !ustules !a!ules on erythe#atous base on hands+ soles
and hard !alate
, 4oc@y Eountain S!otted .ever' "rom $ic?ettsia ric?ettsii* gram:neg intracellular
)acterium+ #roli"erates inside endothelial cells ::H throm)osis* increased vascular
43
permea)ility+ !ighest )et(een A!ril Se!te#ber in south %tlantic states. tic?:)orne
illness+
X See fever+ 'A+ rash Qd a"ter tic? )ite. nonspeci@c s5 then rash on 2-5th day
(ith blanchin"+ erythe#aouts+ #acular lesions that progress to !etichiae+
!ur!ura starting on wristsan@les and spread pro5imally to head trun@ over
several hours. !al#s soles involved too+
X 8reat (ith do(ycycline in all ages
, %y#e' Gorrellia )urgdor"eri. @rst see erythema migrans I:I1 days a"ter )ite+
X ,arly disse#inated 6days/(?s7 E multiple erythema migrans* CN palsies*
meningitis* carditis
X %ate 6HM(?s7 : arthritis 6usually ?nee7
X 8reat (ith do(ycycline i" H U years old. oral a#o( or cefuro(i#e "or ?ids 3 U
6canPt use do5y7
\ I" vomiting* arthritis* cardiac dR* neuro involvement : use =V PCN * or
ceftria(one
, Eolluscu#' !early lesions (ith central u#bilication. can )e in linear arrangements
X Spontaneous resolution over months / yrs. can currette )ut can dis@gure*
conta"ious
, 'SV' con;uent !ustules+ blisterscysts+ hy!o!i"#ented on erythe#atous base*
o"ten on ver#illion border o" lip* can )e erythe#atous ede#atous
X V0 presentation is "in"ivosto#atitis 6in anterior #outh7. can autoinoculate
X I" ocular or near eye* get $uoroscene e(a# "or 'SV @eratitis (ith o!tho
X 4ecurs (ith stress : consider oral acyclovir (hen Just tingling 6prodromal phase7
, =#!eti"o' honey colored* "ria)le / crusting lesions. can have bullae / )listers 6)ullous
impetigo7
X &ost commonly S0 aureus* also *A&'S
X 85' @ee! clean* can use to!ical ab( i" local* ce!hale(in au"#entin clinda i"
wides!read
, Scarlet fever' sand!a!er rash* strawberry tongue* desJua#ation o" !al#s soles*
!alatal !etichiae 6most sensitive @ndings7* can have !urulent !haryn"itis or Just )e
asy#!to#atic
X From *A&'S+ O"ten have fever+ 'A+ abdo#inal !ain 6classic "or strep* very
severe* on api dd57
X Eost conta"ious (hen in acute !hase
Pharyn"itis I related stu>'
*A&'S ;stre!- !haryn"itis' sore throat* "ever* !/%* malaise* nausea* a)d pain+ e5udative
tonsils* tender cervical lymphadenopathy* may have petichiae on so"t palate
, Get ra!id test 6speci@c. rare "alse positives* )ut not great sensitivity : so conFr#
ne"ative with c(/
, 8reat (ith 10d of oral PCN or =E ben9athine PCN * ( 1+ Can also use erythromycin*
aRithromycin* clindamycin i" allergic+ No resistance to #CN documented+
*A&'S associated stuf'
, Scarlet fever ' erythematous sand!a!er rash on nec?* a5illae* groin* spreads to
e5tremities* starts along (ith pharyngitis & can desDuamate 01:0Kd later
44
, Acute rheu#atic fever ' occurs 1 w@ a"ter strep pharyngitis' carditis+ #i"ratory
!olyarthritis+ transient <Sydenha#/ chorea+ erythe#a #ar"inatu#+
subcutaneous nodules. must "ull@ll Wones criteria' t(o o" a)ove* or one o" a)ove BmaJor
criteriaT along (ith one o" "ever* arthralgia* elevated C$#/ES$* prolonged #$ on EFG+ %lso
need evidence o" recent G%S in"ection 6c5* rapid antigen* AS1 titer/
X Give PCN !!( to prevent recurrent %$F
, APS*N' glomerulonephritis a"ter either !haryn"itis or celllulitis (ith G%G!S
X Not afected )y timely a)5 therapy
X 10 days after infection' see he#aturia+ ede#a+ oli"uria+ ')N (ith low C2
X Give PCN I diuretics. steroids donPt help* most recover Just @ne+
Nec@ abscesses8
A 4etro!haryn"eal abscess8 usually in toddler 3 Ky' odynophagia* "ever* posterior
pharyngeal s(elling*
W Passively refuses to #ove nec@ /// pain : more li?ely retropharyngeal
W can s!read to #ediastinu# 6)ad ne(s7
, Peritonsillar abscess' any age* )ut o"ten in adolescent youn" adultG most common
a)scess in peds pts
X Sore throat* odynophagia. tris#us 6re"usal to open mouth7 more common than
retropharyngeal
, Get lateral cervical (-ray
, etiologies' stre! !yo"enes+ sta!h s!!+ h0 $u+ !e!tostre!tococcus+ bacteroides+
fusobacteriu#+
X O"ten !oly#icrobial
X Can also )e viral 6EG9* C&9* adeno* rhino7
, 8reat (ith =V PCNs+ 2rd "en ce!halos!orins+ or carba!ene#s
X add clinda or #etronida9ole i" concern "or anaero)es as (ell
, DD5 also includes thryro"lossal duct cyst 6midline* moves (ith mouth opening7 or 2nd
brachial cleft cyst 6lateral7
)ooth abscess' can )e stre! #utans+ fusobacteriu#+
, Give ab( 6amo5 or clinda7 & get to dentist (ithin ne5t KUh
,&V' remem)er that Eonos!ot hetero!hile Ab test doesnPt (or? (ell "or youn" @ids K 3
6get speci@c %) test7
1titis I related conditions
Co##on A1E or"anis#s' S0 !neu#o* nontypa)le '0 $u+ E0 catarrhalis+
, S+ aureus* E+ coli* ?le)siella* #seudomonas i" neonate or immunode@cient
, 9iruses too. etiology o"ten un?no(n+
, 8reat' high dose amo5 ::H augmentin in Id i" no improvement
, &ay need tympanocentisis* c5 o" middle ear ;uid i" treatment resistant+
, I" a youn" child 6e+g+ 0 mo7* (ith A1E* need to ad#it to hos!ital "or se!sis wor@u!
6i" "everish* irrita)le* diarrhea* etc7
1titis e(terna 6BS(immerPs earT7 : o"ten Pseudo#onas or other GN$s* S0 aureus+
occasionally candida / asperg+
45
, Consider in ?id (ho (as at summer camp* e5posed to (ater* etc+
, 8reat' topical !oly#y(in corticosteroids #i(ture
Eastoiditis' #inna pushed "or(ard* "ever* ear pain* s(elling/redness )ehind ear a"ter %O&
, D5' get C) "or con@rmation+ 85' #yrin"oto#y+ $uid c(+ !arenteral ab( 6surgical
drainage i" no improvement in /K:KUh7
Cholesteato#a' congenital or acDuired 6eg recurrent otitis7. small sac (ith epithelium
containing de)ris+
, <hitish mass protruding through tympanic mem)rane seen on otoscopy
, Can cause CNS complication / gro( aggressively : re"er to EN8* C8 temporal )ones+
4es!iratory infections
%un" Fndin"s'
, Staccato cou"h' (ith crou! or chla#ydial PNA
, ,osino!hilia' thin? chla#ydial
, &i!hasic stridor 6insp & e5p7 and hi"h fever : thin? bacterial tracheitis
X O"ten viral $I s5 @rst* then rapid increase in temperature* resp distress (ith
secondary )act+ in"+
X Fids loo? to5ic= intubate I use =V ab(
X DD5 includes epiglottitis* etc+
Pertussis' B<hooping coughT in neonates* in"ants 6nonspeci@c $I in adolescents & adults7
, Spread via aersoliRed droplets "rom coughing+ !ighly in"ective i" unimmuniRed+ Immunity
"rom va5 (anes+
, Course'
X Q:01 d incu)ation* then catarral !hase 6lo( grade "ever* cough* coryRa7* then
X 2-B w@ !aro(ys#al !hase 6whoo!in" on deep* sudden inspiration during intense
coughing spasm7* posttussive emesis* can get facial !etechiae+ scleral
he#orrha"e "rom "orce"ul coughing+ aoung in"ants canPt (hoop 6canPt develop
enough inspiratory "orce7
X >ast* convalescent !hase "or /:U (?s
, %abs8 see si"niFcant ly#!hocytosis* can get NP swab D.A PC4 to detect
, 8reatment' hos!itali9e youn" infants+ Can use erythro#ycin to shorten duration o"
illness6)ut only in catarral phase7* i" given later* (ill reduce in"ectivity+ Give
erythro#ycin !!( to household daycare contacts irrespective o" their immune
status+
, neonatal immunity not de!0 on momPs immune status 6trans!lacental Ab not 100P
!rotective/
X natural immunity is li"elong* )ut immunity "rom va5 declines (ith age 6use 8dap
instead o" 8d7
X I" e5posed* give erythro#ycin to prevent / lessen severity o" disease 6in
!re!aro(ys#al sta"e/
Crou!' ?ids B-2B #onths (ith sudden onset o" hoarse voice+ seal-li@e bar@in" cou"h+
ins!iratory stridor a"ter progdrome o" 0/:0Kh "ever* rhinorrhea. respiratory distress can
46
develop also+
A Para$u is [1* also $S9 / ;u
A Classically stee!le si"n on %# nec? / chest radiograph 6su)glottic tapering7 )ut 3 412
sensitive
A 8reat' cool #ist+ race#ic e!i ne!bs+ =V corticosteroids+
,!i"lottitis' classically ! ;u G* no( can )e strep pneumo+ Fids loo? to5ic* drooling* tripoding*
thum) sign+
, $eDuires e#er"ent intubation & I9 a#!-sulbacta# or 2rd "en ce!halos!orin
emprically+
&ronchiolitis' viral >$8I in"ection* usually 4SV 6also para;u* h&#9* ;u* adeno7 )et(een Nov I
A!ril
, Classically youn" @ids 6/:4 months most hospitaliRed7. also preemies* C>D* etc+ (/ "amily
mem)ers (/ $I
, $S9 ma?es a syncitu# o" the ciliated epithelial cells. in;ammation* plugging results+
, !ave fever+ tachy!nea+ varia)le res! distress* o"ten (ith whee9in"+ ronchi* cra?les*
etc+
X CC$' hy!erin$ated+ !eribronchial thic@enin" <;cuXn"-/+ increased interstit+
mar?ings
X >asts 5-10 days+ then recover over 1-2 wee@s+
, 8reat' su!!ortive* mostly outpatient+ Corticosteroids* )eta:agonists not help"ul 6)ut i" not
sure i" @rst:time asthma* o"ten may try in ED "or a course7+ se !alivi9u#ab 6monoclonal
$S9 %)7 "or passive pp5 in ?ids at ris? 63/ yr old e5 preemies* ?ids (ith C>D needing
o5ygen7* etc+
PNA <%4)=/ or"anis#s
First "e( days o"
li"e
A ,nterobacteriaceae+ *&S are )ig t(o
A %lso S0 aureus+ S0 !neu#o+ %isteria
First "e( months A C0 tracho#atis 6staccato cough* tachypnea* -/: conJunctivitis or
maternal h5. eosino!hilia* bilateral inFltrates (ith hyperin;ation*
may )e a"e)rile7
A Viral #N%' 'SV 6most concerning. thin? acycolvir=7* enterovirus*
in;uenRa* $S9
% "e( months : 4
yrs
, Viral #N% is )ig' adeno+ rhino+ 4SV+ $u+ !ara$u
, Gacterial' thin? S0 !neu#o+ non-ty!able '0 $u
H 4 yrs , Eyco!las#a is most common : thin? a9ithro#ycin or
cephalosporins
, Could also )e most o" the a)ove* e5cept listeria & GGS
IC / intu)ated Consider !seudo#onas & candida
Chronic lung dR 8hin? !seudo#onas+ as!er"illus
Other clues' , 8ypical rash : thin? varicella
, 4etinitis : thin? CEV
47
, Sta"nant water : thin? %e"ionella
, $e"ractory asth#a or fun"al ball - thin? As!er"illus
, 8ravel to southwest : Coccidiodes i##itis
, 8ravel to or (or?ing on far# - Co(iella brunetti
, S!elun@in"* (or?ing on "arm east o" $oc?y &tns : 'isto!las#a
)rea#ent basics'
, Outpatient' usually hi"h dose a#o( or au"#entin+
X Can use a9ithro#ycin i" B(al?ing #N%T 6mycoplasma* c+ pneumo7 suspected
X Give a9ithro#ycin "or C0 tracho#atis #N% in in"ants
, !ospitaliRed' use I9 a)5
X 3 /U days' a#! I "ent to cover GGS* etc+ 8hese ?ids get hospitaliRed 6r/o sepsis7
X 0 mo:Imo' ceftria(one T- #acrolide
X K mo:Kyrs' ceftria(one T clinda 6s+ pneumo* [&$S%7
X 4:04yrs' #acrolide T- ceftria(one T- clinda 6atypicals* s+ pneumo* [mrsa7
X A#!sulbacta#+ clinda+ ceftria(one+ a9ithro#ycin+ vanc may )e needed+
S0 aureus #N% can cause tension P)Y 6via to5in ::H rupture o" alveoli7+
, &ostly associated (ith e#!ye#a though : (hich you canDt drain 6r5 (ith vanc=7
, Can also cause !leural e>usion
Pneu#ococcal #N%' o"ten (ith sudden onset o" fever+ cou"h+ chest !ain
, Can "ail outpatient therapy i" amo5 6need hi"h dose PCN+ cefuro(i#e+ a#o(clav+ or
even vanc=7
Se!sis8
, ,arly:onset 60st M days7' thin? birth canal 6*&S+ '0 $u+ ,0 coli+ %isteria7
X 8reat (ith a#!"ent
, %ate:onset 6Qd:^1d7' thin? environ#ent <coa"-ne" sta!h* S0 aureus+ ,0 coli+
7lebsiella+ #seudomonas* Entero)acter* Candida* GGS* Serratia* %cineto)acter*
anaero)es/
X 8reat (ith vanc 2nd or 2rd "en ce!halos!orin <vanccef+ etc/
, *&S is V0 cause sepsis in 0st I months. U12 are early onset 6septicemia* #N%*
meningitis7 "rom vert trans
X O"ten see resp signs @rst' a!nea+ "runtin"+ tachy!nea+ cyanosis in U12*
hypotension in /12
X 412 develop seiRures (ithin /Kh+
X %ssociated (ith !rolon"ed ru!ture of #e#branes+ a!nea+ hy!otension in 0st
/Kh li"e* AP*A4 K 5 C 1 #in* rapidly progressing pulmonary disease+ ,arly *&S8
increased ris? (ith $1E L 1Sh+ chorioa#nitis+ intrapartum 8 H IUC* previous
GGS- in"ant* young mother 3 /1* >G< or prematurity
X #revent (ith screenin" C 25-2V w@s "estation+ se intra!artu# ab( i"
needed+
, %isteria' gram - rod* rare in"ections in S%* "rom so"t cheeses mil?* undercoo?ed
chic?en* hot dogs* etc+
48
X %cDuried transplacentally or )y aspiration/ingestion at )irth
X &rown-stained a#niotic $uid* "e)rile mom* erythematous !ustular rash on
)a)y* pallor* poor "eeding* tachypnea* cyanosis* E1N1CQ)1S=S on C&C* I12
mortality "or early onset dR
Eenin"itis
1r"anis#s by a"e of !atient8
K 1 #o Seeding "rom mom' *&S+ ,0 coli+ *N4s+ 'SV+ %isteria+ %lso strep+ pneumo
1-2 #o ,0 coli+ S0 !neu#o* enteroviruses* !iG* GGS
2#o-By S0 !neu#o+ N0 #enin"itidis+ enteroviruses* borrellia bur"dorferi* !iG
LB S0 !neu#o+ N0 #enin"itidis+ enteroviruses* borrellia bur"dorferi
A 4arely could )e due to )&+ ,&V+ bartonella+ cry!tococcus too
A N0 #enin"itidis' may see !etechial !ur!uric rash as (ell+
CS. in meningitis
<GC #&Ns #rotein Glucose
Gacterial H 0*111 H Q42 9ery high 9ery lo(
9iral 3 411 3 412 6more lymphs7 Normal / high Normal
>yme 3 011 3 I12 6lots o" monos7 Normal / high Normal
Eenin"itis treat#ent 6i" )acterial7
, &ost ?ids' Vanc T ceftria(one. use steroids too
, Neonates' a#!icillin 6GGS* >isteria7 & ceftria(one 6GN$s7
, Start (ith a)ove empiric treatment "or 10-13dG narro( (ith c5
X 8reat #enin"ococcal dR "or 5-Vd+ %y#e "or 13-2S+ and neonates "or 13-21
, 10P o" ?ids have !ersistent neuro deFcit 6hearing loss* dev delay* motor pro)s* sR*
hydrocephalus7
%P8 contraindications include increased =CP in patient (ith closed fontanelle 6can
herniate7* severe cardiores!iratory distress+ s@in infection at puncture site* severe
thro#bocyto!enia or coa"ulation disorder 6ooRing I9* venipuncture sites7+
*astroenteritis <bacterial/
note: enteritis * small $o#el, colitis * large $o#el
A Sal#onella' aero)ic GN$* motile* no lactose "ermenting* more common in war#er
#onths
W "astroenteritis* meningitis* osteomyelitis* )acteremia E non:typhoidal
presentation
\ *astroenteritis' nausea* emesis* cramping a)d pain* (atery/)lood
diarrhea* sudden
49
\ )y!hoid "ever "rom salmonella t"phi too
W Need to ingest many organisms E person:person unli?ely
W Can have some neuro s5 (ith gastroenteritis
W no ab( for sal#onella? can increase ris? o" '5S+ Gut treat i"
immunocompromised / 3 Imo 6higher ris? o" disseminated disease7
A Shi"ella' small GN$s* nonlactose "ermenting* motile
W more common in (armer months / Frst 10 years o" li"e 6pea? /:I yrs7
W Only ta?es a "e( organisms 6!erson-!erson trans via "ood* (ater7
W Cramping a)d pain* (atery diarrhea progressing to small* )loody stools* anore5ia
\ can have neuro Fndin"s too 6h/a* con"usion* hallucinations7 )ut
meningitis in"reDuent
\ peripheral (hite count o"ten normal )ut (ith bi" ti#e left shift
6bands L !olys/
W Can "ive ab( "or Shi"ella 6sel":limited )ut decreases disease course* organism
shedding7
A Ca#y!lobacter
A ,0 coli 6E!EC' can cause )loody diarrhea )ut o"ten (ith no fever. EIEC E no )lood/
W Culture on EacCon@ey sorbitol to diagnose O04Q'!Q
A Qersinia a/( reactive arthritis* erythe#a nodosu#+ Can localiRe to 4%M
6Bpseudoappendicitis7
A D5' Get stool c5* "ecal leu?ocytes 6Just indicates in;ammation7
W '5S' in E+ coli O04Q'!Q* [1 cause acute renal failure in @ids : usually younger
than K yrs
\ &icrothrom)i* microvascular endothelial damage* #icroan"io!athic
he#olytic ane#ia & consu#!tive thro#bocyto!enia. also renal
"lo#erular disease
\ 1-2 wee@s after diarrhea' sudden onset o" !allor+ irritability+
decreased 51P+ can have !etichiae I ede#a* even stro?e sometimes+
A 85' supportive* ;uid / electrolytes+ 4,*5%A4 D=,) L ;&4A)- or clears 6counter:intuitive7
*astroenteritis <Non-bacterial/
4otavirus "astroenteritis' maJor cause in in"ants / toddlers in <estern (orld+ #ea?s Nan -
A!ril
, #ro"use diarrhea* vomiting* lo(:grade "ever. can lead to electrolyte distur)ances+
Supportive care+
*iardiasis' most common intestinal parasite in S%+ $elated to water Juality
, FreDuent* foul-s#ellin"+ (atery stools (ith blood #ucus* a)d pain* N/9* anore5ia*
$atulence too
, O"ten resolves 4:Q days+ Give #etronida9ole+
Co##on
na#e
Parasite
na#e<s/
Source Si"nss( D( )(
Ascariasis Ascaris
lum)ricoides
.ecal-oral &ost as5+
'e#o!tysis* pulm
Stool' see
e""s*
%l)endaRole*
me)endaRole*
50
inFltrates* a)d
pain* distension*
obstruction
occasionally
adult (orms in
stool or
cou"hed u!
pyrantel pamoate*
piperaRine to clear
o)struction
'oo@wor#s
Ancyclosto
#a
duodenale*
Necator
americanis
#enetrate
s?in
#ruritis* rash A
entry site+
Epigastric pain*
diarrhea+ Ane#ia
"rom )lood loss*
res! s(
Ovoid eggs in
stool
&e)endaRole*
al)endaRole*
pyrantel pamoate*
also iron
su!!le#ent
Pinwor#s
,nterobius
vermicularis
Ingestion o"
egg
Nocturnal
!erianal itchin"
)a!e test
6O&# not
use"ul7
#yrantel pamoate*
me)endaRole*
al)endaRole
Stron"yloid
s
Stron"yloid
es
stercoralis
>arvae
penetrate
s?in* to
lungs* to
intestines*
can go )ac?
& "orth
Epigastric pain*
emesis* diarrhea*
mala)sorption* (t
loss
>arvae in
"eces* or
strin" test to
sample
duodenal ;uid
=ver#ectin*
thia)endaRole
Visceral
ocular larva
#i"rans
)o(ocara
spp
Egg ingestion
6soil
contaminated
(ith dog/cat
"eces7 : @id
eatin" dirt?
Fever* cough* a)d
pain.
he!ato#e"aly*
ronchi* whee9in"+
s?in lesions*
eosino!hilia
Clinical pres*
serologic
testing*
microscopy o"
tissue
9isceral' sel"
limited+ Ocular'
diethylcarba#a9i
ne* al)endaRole*
me)endaRole 6)ut
all drugs can cause
in$a##atory
r(n?/
:hi!wor#s
)richuris
trichiuria
Egg ingestion
Proctitis* )loody
diarrhea* a)d pain*
rectal !rola!se
>emon:shaped
eggs in stool
&e)endaRole /
al)endaRole
)richinellosi
s
)richinella
spiralis
uncoo?ed
!or@* other
ra( meat
First (?' abd !ain+
NV+ #alaise0
8hen' #uscle
invasion8 ede#a
of eyelids+
#yal"ia+ w@nss+
fever
,osino!hilia
on la)s+
Organisms can
)ecome encysted*
stay via)le "or
years in muscle
%e!tos!irosis' V0 Roonotic in"ection (orld(ide
, e5posure to dogs* cats* rats* livestoc?* other (ild animals 6urine7
, &ost o"ten su)clinical* can also )e symptomatic* starting (ith Bsepticemic phaseT o"
fever+ chills+ ## !ain+ !haryn"itis+ 'A+ con6unctival in6ection+ !hoto!hobia+
cervical adeno!athy* then+++
X anicteric "orm : symptoms resolve* then Bimmune phaseT 6#enin"itic s5 return*
can lst "or month7
51
X icteric "orm <;:eil syndro#e-/ : severe s5 (ith liver+ @idney dysfunction
, 8reat (ith PCN+ tetracycline 6in children 01-7
5)=s
, S5' fever L 2O+ vo#itin"diarrhea+ fussiness in ?ids
, At ris@'
X Voidin"dysfunction 6neurogenic* (ill"ul/)ehavioral* pin(orm7
X Consti!ation and )ehavioral pro)lems
X $ecent antibiotic use
, %abs8
X %eu@ocyte esterase ' not speci@c* lo( ##9+
X Nitrites' very s!eciFc 6almost de@nitely a 8I7
, Sterile !yuria' "evers* interstitial nephritis* viral in"ections* appendicitis
X Adenovirus can cause a he#orrha"ic cystitis
, Ad#it i" theyPre not ta?ing #O+ =V ce!halos!orin is a @rst:line choice "or meds in that
case
, )o wor@ u! or notH
X #retty much (or? up all in"ants admitted to hospital 645S to loo? "or
hydronephrosis* presence o" ?idneys* siRe* consider VC5* to loo? "or V54* also
scinti"ra!hy : D&S% to loo? at renal tu)ules* or &%G:I to loo? at e5cretion7+
, 'ydrone!hrosis dd5' 5P 6unction obstruction+ uretorocoele <5VN o)struction7*
#assive V54
, )reat#ent'
X Cystitis' )EP-SEY+ a#!icillin+ a#o(icillin+ nitrofurantoin+ usually treat i" /%
suggestive. get c5* d/c a)5 i" negative
X Pyelone!hritis' get oral=V ce!halos!orin or =V a#!T"ent until c5 availa)le+
%dmit i" to5ic appearing* canPt do #O* or K B #o "or 01:0Kd
&rain abscess' consider especially in ?ids (ith ri"ht to left shunts 6eg 8etFal7+
A fever+ 'A+ lethar"ic+ nysta"#us+ ata(ia+ etc : get a C)E4=
Acute 1titis Eedia' Can )e viral 6$S9* para;u* ;u7 or bacterial <S0 !neu#o+ nontypa)le '0
$u+ E0 cat/
, Gulging 8&* erythematous* opaDue* poor light re;e5* decreased mo)ility* acute h( s(
, DD5'
X 1E,' ;uid 6poor mo)ility o" 8&7 )ut no evidence o" in;ammation 6gray/clear 8&*
no s57
X Eyrin"itis' in;ammation o" 8& )ut nor#al #obility* usually (ith viral 54=
X 1titis e(terna' ear pain* (orsened (ith manipulatino* canal hurts+
X Eastoiditis' anteriorly dis!laced earlobe* high "ever* tender+ Give =V ab( & may
need sur"
, 85'
X %)5 i" youn"er than 23 #onths+ at ris? "or poor "ollo( up* ill a!!earin"*
immunode@cient* or (ith recurrent / severe / per"Pd %O&* give hi"h dose a#o(+ I"
no improvement in KUh* au"#entin
X I" older than 23 #o and disease not too severe* decide ab( vs !ain control I
52
watchful waitin"
\ Can give $5 to @ll in KUh i" no improvement+
X )y#!anosto#y tubes i" 1E, lon"er than 2 #onths 6ris? o" delay o" language
acDuisition* hearing loss7* or 3 A1E episodes in B #o 6or 4 in 0/ months7
Vaccination '
, &ild $I* gastroenteritis* lo(:grade "ever not contraindications
, %l(ays contraindication' immediate hypersensitivity
, 8rue e"" hy!ersensitivity contraindication "or in$uen9a+ yellow fever )ut not &&$
, %ive vaccines usually not given to !re"nant wo#en+ severely i##unoco#!ro#ised
X !I9 - OF i" not immunocompromised
=nterestin" contraindications 6outside o" the ordinary ones7
, D)aP8 ence!halo!athy (ithin 0 (? o" previous administration
, '&V' anaphyla5is to ba@erDs yeast
, EE4' anaphyla5is to neo#ycin+ "elatin. also pregnancy* immunode@ciency
, =PV' anaphyla5is to stre!to#ycin+ !oly#y(in &+ neo#ycin
, Varicella' anaphyla5is to neo#ycin+ "elatin
Neonatolo"y
AP*A4 '
Score 0 1 2
A!!earance Glue* pale %crocyanosis Completely pin?
Pulse %)sent 3011 )pm H011 )pm
*ri#ace
6re;e5 irrita)ility to nose
suction7
No response Grimace Cough / sneeRe
Activity >imp Some ;e5ion o"
e5tremities
%ctive motion
4es!iratory e>ort %)sent* irregular Slo(* crying Good
Start ba"-valve-#as@ i" no res!irations or !ulse K 100?
, Chest co#!ressions then i" !$ stays under B0 (ith 0112 O/
, Drug therapy 6e!ine!hrine7 a"ter 20s o" compressions i" pulse still 3 M1
)ransient tachy!nea of the newborn' other(ise healthy "ull:term )a)y (ith tachypnea at
Z0h o" li"e
, From incomplete evaculation o" "etal lung ;uid in full ter# infants
, &ore common (ith C-section* disappears in 23-3Sh of life* can give supplemental
o5ygen #$N
, Perihilar strea@in" & $uid in Fssures on CC$+
53
Eeconiu# as!iration syndro#e' aspiration during delivery ::H respiratory distress
, hy!erin$ation T !atchy inFltrate on CC$
, Can see air tra!!in" (hich can lead to P)Y+ especially i" you use #EE#
, endotracheal intubation T direct suction cem out before thora( delivered 6)e"ore
0st )reath7
X &ay need some iN1 "or !ul#onary ')N
4DS' preemies* sur"actant de@ciency* give cem surfactant+ >ungs mature starting at 22 w@s0
A "round "lass reticulonodular !attern (ith air broncho"ra#s+ decreased aeration
on CC$
A %ecithin8s!hin"o#yelin ratio H / is predictive o" good lung development
W Eaternal steroid administration can s!eed u! production o" sur"actant. also
#$O&* stress* maternal narcotic addiction* preeclampsia* hyperthyroidism*
theophyllin
W Eaternal diabetes 6"etal hyperglycemia* hyperinsulinemia7 can slow down
sur"actant production
A Give sur"actant* then decrease FiO/ to reduce O/ to5icity 63M12 FiO/ is )etter7+ &ay need
NC / C#%# /vent
A!nea of !re#aturity' a!nea L 20 sec 6or (ith cyanosis / s5 or brady K 100 b!#/
, sually mi5ed central / o)structive+d picture+
, DD5 vs !eriodic breathin" 6normal in neonates* in"ants7 : pauses o" 4:01s (ith rapid
)reathing a"te(ards
, %/( bradycardia 63U1)pm in ne()orn7+ Needs &VE i" hypotonic* pallor+ 8reat )y
#aintainin" s@in te#!* supplemental O/* tactile stimulation* cafeine to sitimulate
respiratory center+ Eonitor "or ZQd (ithout %/G episode. can send home (ith apnea
monitor "or period o" time as (ell+
CD'' herniation o" a)dominal contents* usually > side* leads to pulmonary hypoplasia+
, &ostly left !osterolateral dia!hra"# defect 6&ochdale@ hernia7
A See immediate respiratory distress* scaphoid a)domen* cyanosis* heart sounds
dis!laced to right side. di#inished breath sounds on same side
A DonDt ba" I #as@ 6)o(el gas accumulates in chest* get (orse7 : =N)5&A),?
A DonDt try to put a needle in to aspirate ;uid : you could puncture the )o(el=
A DD5 includes con"enital cystic adeno#atoid #alfor#ation' em)ryonic disruption o"
)roncihole development* )ig cystic mass IDPd on prenatal ultrasound* causes pulmonary
hypoplasia )ut sto#ach I intestines in the ri"ht !lace
1#!halocoele' viscera herniate A u#bilicus into sac covered by !eritoneu#+ a#niotic
#e#brane+
, %/( bec@with wiede#ann+ #olyhydramnios in utero+
, &anagement' Do C-section to prevent rupture o" sac+ I" s#all+ re!air+ I" lar"e+ cover
(ith prosthetic material* reduce* & repair later 6not a surgical emergency i" sac intact7+
*astroschisis' no sac* herniation o" intestine through a)dominal (all lateral to um)ilicus+
A #olyhydramnios in utero+ &anagement' sur"ical e#er"ency 6put Silastic silo over
e5posed )o(el. reduce over days7
54
=V' <intraventricular he#orrha"e/ : especially in V%&: babies* @rst I days o" li"e* many
as5+
A D( (ith anterior fontanelle 5S 6all 9>G< should )e screened (ith one7
A &anage )y #aintainin" cerebral !erfusion )ut controlling intracere)ral pressure+
Follo( (ith /S+
'=, 6hypo5ic ischemic encephalopathy7 : )ig cause o" neonatal mor)idity / mortality+ O"ten ///
intrapartum event
, [1 cause o" neonatal sei9uresG o"ten present (ith severe perinatal deprssion / asphy5ia
needing resusc+
, [1 !redictor o" long:term mor)idity E neuro e(a# C 1 wee@ of life 6good i" a)le to
ta?e "ull oral "eeds* normal e5am : chances "or "ull recovery very good7+
Euscular torticollis ' nec@ twisted to one side in neonate s/p di_cult delivery 6)ig/)reech7*
!al!0 SCE #ass
, Get radio"ra!hs to rule out cervical s!ine in6ury )e"ore doing any stretching=
, )reat initially (ith !assive SCE strechin"0 Can lead to facial asy##etry i" not ta?en
care o"+
, DD(8
X 7li!!el-.eil syndro#e ' con"enital fusion o" portions o" cervical vertebrae*
restricted nec? movement* short nec?* low hairline+ %/( S!ren"el defo#ity
6congenital elevation o" scapula7* structural urinary tract a)normalities
X Sandifer syndro#e+ *,4D* hiatal hernia* and head !osturin" 6can loo? seiRure
li?e7+ Get eso!ha"eal !' !robe to loo? "or re;u5=
X Dystonic reaction to meds 6metoclopramide or antipsychotics7 : t5 (ith
di!henhydra#ine
X %lso retro!haryn"eal abscess+ tu#ors+ dystonia+ :ilson d9+ syrin"o#yelia+
other stuf
A!t test' helps distinguish in"ested #aternal blood fro# babyDs blood in neonate with
bloody stool
, 6"etal hemoglo)in is al?ali resistant7
Sub"aleal he#ato#a' Gleed into suba!oneurotic s!aceG crosses suture lines* e5pands
ra!idly
can lose )ig )lood volume / get hemodynamically compromised : ta?e to N=C5?
Ce!halohe#ato#a' Gleed )t(n s@ull and !eriosteu# 6rupture o" )ridging vessels7. does not
cross suture lines
Especially a"ter prolonged delivery. usually doesnPt cause compromise* resolves / resor)s
can cause indirect hyper)iliru)inemia
Ca!ut succedaneu#' Serosanguinous* )et(een scal! I !eriosteu#* crosses suture lines
associated (ith !ressure of head a"ainst cervi( 6vaginal deliveries7
So"t* spongy scalp. o)serve only= Goes a(ay on its o(n+
55
Pro!ranolol is )ad "or )a)y during delivery i" mom ta?es it : baby canDt res!ond to
bradycardia. a/( )rady episodes* also apnea / "ailure to develop tachycardia during an
asphy5iation in delivery
%abs at birth'
, S*A infants can have decreased uteroplacental )lood ;o(* placental in"arction : results
in fetal nutritional de!rivation+ inter#ittent fetal hy!o(e#ia ::H decrease in
"lyco"en stora"e & !olycythe#ia
X *lc8 20-30 is normal in "ull:term in"ant in 0st postnatal day
X Ca8 decline during @rst /:I postnatal days. only a)normally lo( below V05-S
#"d%
X 'y!erE"' common (hen mom got &gSOK. as5 or ;oppiness
X 'ct L B5P E !olycythe#ia. get increased blood viscosity
\ 'y!ervisocity syndro#e' tremulousness* Jitters ::H sR 6sludging*
throm)i7. can also lead to !ria!is#+ necrotiRing enterocolitis* tachypnea*
etc+ DonDt do !hleboto#y 6(ill incr+ viscosity )y decr+ arterial pressure7. do
!artial e(chan"e transfusion (ith saline / lac ringers instead 6)ut only i"
!ct H Q1 or symptomatic7
.irst wee@ of life8
, >ose 105-2P body wei"ht per day "or Frst 5 days of life 6e5cess ;uid e5creted7
, 'ct falls 6adaptation to environment o" higher o5ygen7
, &ili rises+ !ea@s around I:4 days o" li"e
, Several #econiu# stools in days 0:/* then soft yellow stools
'y!ocalce#ia in ne()orns' see tetany+ sei9ures* etc+
, ,arly 6@rst Q/ hours7 : usually idio!athic hy!ocalce#ia+ Can also )e /// maternal
illness 6diabetes+ to(e#ia+ hy!er!arathyroidis#7 or neonatal res!iratory distress+
se!sis+ %&:+ hy!oE"
, %ate 6a"ter Q/ hours7 : transient !er#anent hy!o!arathyroidis# (ith hi"h
!hos!hate inta@e
Cleft li! !alate' 0'0111 ?ids. K2 o" si)s o" afected ?ids+
Can lead to feedin" !roble#s+ recurent otitis+ hearin" loss+ s!eech deFcits 6even
(ith good closure7
sually close li! A /:I mo* then !alate )et(een Mmo:4yrs
56
)win-twin transfusions8 042 o" monochorionic t(ins. can cause intrauterine death+
, Suspect i" he#atocrits di>er by L 15 #"d%+
, Donor t(in E lo(er !ct* can have oligohydramnios* anemia* hypovolemia* shoc?+
, 4eci!ient t(in' hydramnios* plethora* lar"er than donor
X 'y!erviscosity syndro#e i" !ct H M42
%ow birth wei"ht' %&: 3 /*411g . V%&: 3 0*411. lots o" >G< )irths in S% E (hy (e have
high in"ant mortality
, From IG$* premature )irth* medical causes
S#all for "estational a"e' &: K 10th Pile "or gestational age+ From IG$ or Just
statistically small
, ,arly-onset =5*4' "rom insult K 2Sw@s gestation+ Sy##etric8 !C* height* (t all
proportional+ &om (ith !8N* renal dR. in"ants (ith chromosomal a)normalities* congenital
mal"ormations+
, %ate-onset =5*48 "rom insult L2Sw@s+ Asy##etric' nor#al 'C (ith reduced
len"th+ wei"htG wei"ht for hei"ht is low* in"ant loo?s long / emaciated+ #lacental "5n
"ails to ?eep up (ith "etal reDuirements+
%ar"e for "estational a"e' H^1th2ile or H /SD+ =nfants of diabetic #o#s+ neonates (ith
)*A+ erythroblastosis fetalis+ &ec@with-wiede#ann syndromes+ Can also )e constitutional
6)ig parents7+
, Eonitor blood su"ar 6prone to hypoglycemia7. "et 'ct 6prone to polycythemia7
, Eacros#otic E H K*111 6very >G%7 : ris? o" shoulder dystocia+ birth trau#a+ etc0
Post#aturity' H K/(?s+ Dry* crac?ed* peeling s?in* malnourished appearance common at )irth
, Can see #econiu# as!iration res! de!ression* PP'N+ hy!o"lyce#ia+ hy!oCa+
!olycythe#ia
Polyhydra#nios i" "etus canPt s(allo( 6a)dominal (all de"ects* dia)etes* anencephaly*
myelomeningocoele* esophageal / duodenal atresia* diaphragmatic hernia* cle"t palate7
1li"ohydra#nios i" "etus canPt e5crete ;uid+
, Potter seJuence i" bilateral renal a"enesis 6clu))ed "eet* compressed "acies* lo(:set
ears* scaphoid a)domen* diminished chest (all siRe7+ !igher ris? o" res! failure than
renal insu_ciency+
Neonatal hy!o"lyce#ia' may have transient )lood glucose in 20s and )e OF. de@nition is
K300
A Gut persistent GG 3 B0 : loo? "or !atholo"y 6in)orn errors o" meta)olism* ID&* etc7
.etal e(!osures
.etal alcohol syndro#e'
, small "or gestational age* #icroce!haly+ s#all !al!ebral Fssures+ short nose+
s#ooth !hiltru#+ thin u!!er li!+ ptosis* #icro!thal#ia* cleft li!!alate+ CNS
abnor#alities 6average IY E MQ7
57
Dilantin' #idface hy!o!lasia* lo( nasal )ridge* hypertelorism E )ig gap )et(een eyes*
gro(th retardation* accentuated CupidPs )o( o" upper lip* cardiovascular anomalies* etc+
=nfants of Diabetic Eothers <=DE/
, >arge )a)ies 6macrosmia7* increased "etal O/ reDuirements ::H fetal hy!erinsuline#ia
, &ay have hypoglycemia at )irth : i##ediate feedin" i" 25-30+ =V "lucose i" K25
, Polycythe#ia --L thro#bosis 6partial e5change trans"n i" hct H M47+ hy!oCa+
hy!er&ili too+
X Consider renal vein throm)osis in ID& (ith a)dominal mass 6hydronephrosis7 as
neonate=
, $arely* can see caudal re"ression syndro#e 6hypoplasia o" sacrum* lo(er e5tremities7+
, %lso a/( con"enital heart d9+ N)D
Neurolo"y
'ead )rau#a
Subdural he#ato#a' more common in @ids K 1G rupture o" )ridging veins. )lood )et(een
dura & arachnoid
, Eore #orbidity. less mortality than epidural 6)rain parenchyma involved
,!idural he#ato#a' more common in older ?ids. s?ull "5 - middle meningeal aa lac* )lood
)t(n dura I s@ull
, Eore #ortality. less mor)idity than su)dural 6under pressure7+ Classically (ith lucid
interval
&asilar s@ull f(' !eriorbital <raccoon eyes7 or !ostauricular 6GattlePs sign7 )ruising*
, Can also see hemotympanum* CSF rhinorrhea / otorrhea+
I" *CS is less than S+ then you have to intubate? 6diferent GCS "or ?ids7
Neural tube defects' no "olic acid* valproic acid / car)amaRepine e5posure contri)ute+
elevated A.P in mom
, S!ina biFda' N8D (ith incomplete "usion o" verte)ral arches
, Eyelo#enin"ocoele8 contains neural I #enin"eal tissues+ >eads to hydrocephalus
6get 9# shunt7
, Eenin"ocoele8 Just meninges
, S!ina biFda occulta' )ony de"ect in verte)rae (ith no herniation o" spinal contents+
, Chiari == #alfor#ation 6lo(er )rainstem* cere)ellum pushed )ac?7 : o"ten need cervical
deco#!ression to prevent cyanotic episodes* apnea* stridor* dysphagia* etc+
, Get a C:section "or ?ids (ith N8D "or )etter management+
'ydroce!halus' )ulging "ontanelle. poor "eeding* irrita)le / lethargic* downward deviation of
eyes <;settin" sun- si"n7* spasticity* etc+ can indicate increased IC#+
A Cushin" triad 6hypertension* )radycardia* slo( / irreg respirations7 is a late Fndin"+
A sually get VP shunt <or Ird ventriculostomy i" acDueductal o)struction7 to open ;oor o"
Ird vent+
W Shunt in"ections' most o"ten S+ epidermidis+
58
Pseudotu#or cerebri' )enign )ut important cause o" !/%* o"ten overwei"ht fe#ales
, ["rom impaired CSF resorption+ See !a!illede#a )ut nor#al C)
, %P' increased opening pressure. serial >#s resolve headache
, Can also use aceta9ola#ide furose#ide i" protracted cases+
CNS tu#ors8
=nfratentorial '
)u#or
A"e
C
onset
Eanifestations
5 yr
surv
Co##ents
Cerebellar
Astrocyto#a
4:U
Ata(ia* nysta"#us* head tilt*
intention tremor
^12
/12 o" all primary CNS
tumors
Eedulloblasto
#a
I:4
1bstructive hydroce!halusG
ata(ia.
CS. #ets
412
/12 o" all primary CNS
tumors+ %cute onset o"
s5
,!endy#o#a /:M
1bstructive hydroce!halus.
rarely seeds CSF
412
/4:412 are
supratentorial
&rainste#
6 e+g+ !ontine7
"lio#a
4:U
#rogressive CN dysf(n* "ait
distur)ance* !yra#idal tract /
cere)ellar signs 6)ris? re;e5es*
spasticity* )a)ins?i* etc7
K10
P
<orst prognosis o" all
childhood CNS tumors
Su!ratentorial
)u#or
A"e
C
onse
t
Eanifestations
5 yr
surv
Co##ents
Cerebral
astrocyto#a
4:01
SR* !/%* motor wea@ness*
!ersonality changes
01:
412
#oor survival i" high:
grade gliomas
Cranio!haryn"io
#a
Q:0/
&ite#!oral he#iano!sia+
endocrine a)normalities
Q1:
^12
See calci@cation a)ove
sella turcica+ Dia)etes
insipidus common a"ter
surg
1!tic "lio#a 3/
#oor visual acuity* e5opthalmos*
nystagmus* optic atrophy*
stra)ismus
41:
^12
NF:0 in Q12 o" pts
*er# cell tumor :
Parinaud syndrome 6paralysis
o" up(ard gaRe7* lid retraction
6Collier sign7* precoc+ pu)erty+
&ay seed CSF
Q42
Germ cell line
&ay secrete G:hCG or
%F#
59
,!ile!sy Syndro#es
,!ile!sy
Syndro#e
1nset )y!es 1ther
Fndin"s
,,* )reat#ent
%enno(-
*astaut
Childhood 60:Uy7 8ons o"
diferent ?inds
&ental
retardation*
)ad prognosis
Slo( spi?e &
(ave 60:/!R7
9#%*
lamotrigine*
"el)amate
&eni"n
rolandic
e!ile!sy
Childhood 64:
01y7
Simple partial
6mouth* "ace7*
G8C
Nocturnal
preponderanc
e* usually
remits
Centrotempor
al spi?es
Car)amaRepin
e or no
treatment
Absence
e!ile!sy
Childhood 64:
01y7 & Wuvenile
6Q:0My7
%)sence* G8C !ypervent E
trigger
I !R spi?e &
(ave
Ethosu5amide
* 9#%
Nuvenile
#yoclonic
e!ile!sy
%dolescence*
young
adulthood
&yoclonic*
a)sence* G8C
Early morning
preponderanc
e
K:M !R
polyspi?e &
(ave
9#%*
lamotrigine
Si#!le febrile sei9ures' )et(een B #o and B yrs* elevated temperature* "enerali9ed+
short 6304m7+ self-li#ited seiRure without focal Fndin"s. short !ostictal state* o"ten (ith
prior h5 or F!5
Only need to get EEG i" comple5 6long* "ocal signs* etc7
Classic side e>ects of A,Ds
, Carba#a9e!ine 6partial* G8C7' leu@o!enia+ thro#bocyto!enia* aplastic anemia
, ,thosu(a#ide 6a)sence78 rash* rarely aplastic anemia
, Phenobarb ^G8C or partial7' nystagmus* sedation or activation* ata5ia
, Phenytoin 6G8C* partial7' nysta"#us+ rash* drug:induced lu!us+ "in"ival hyperplasia*
polyneuropathy
, VPA 6G8C* a)sence* partial7' he!atoto(icity+ NV+ neural tube defects
, *aba!entin 6partial7' diRRiness* somnolence* ata5ia* "atigue
, %a#otri"ine 6G8C* partial* a)sence* lenno5:gaustault7' rash including SNS* also N/9* rash*
dou)le vision
, )o!ira#ate 6G8C* partial* a)sence* >:G7' confusion+ headache* ata5ia
Status e!ile!ticus' seiRure H I1m or /- sR (ithout "ull recovery o" consciousness 6in reality*
treat H 4m sR7
0+ %GCs* get I9 access
/+ &en9os <lora9e!a# 001 #"@" or dia9e!a#/
I+ T !henytoin 20 #"@"
K+ T !henobarb 20 #" @"
4+ T anesthesia 6midaRolam* !entobarbital+ propo"ol7 to suppress )rain electrical activity
60
Acute infantile he#i!le"ia' acute onset o" a he#isyndro#e (ith eyes loo@in" away fro#
!araly9ed side
, )hro#boe#bolic occlusion o" #iddle cerebral artery or maJor )ranches 6)asically
stro?e / 8I%7
&reath holdin" s!ells' can )e pallid or cyanotic. sudden pain / upset ::H cry ::H color change
::H child holding )reath in e5halation. can lose conciousness )rie;y and can have stifening /
transient clonic movements+
Cerebral !alsy
, Etiology' pro)la)ly most "rom antenatal insults 6less common perinatal* pregnancy*
delivery7
, e have sR* M12 have intellectual disa)ility+ Classically see scissorin" of le"s
, Failure to reach milestones' ste!!in" res!onse H I mo* Eoro H M mo* asymmetrical
tonic nec@ H M mo
, Can calculate #otor Juotient 6motor age / actual age7
, Di!le"ia E )ilateral legs. Juadra!le"ia E all legs* he#i!le"ia E one side* E H >E+
Euscular Dystro!hy'
, Duchenne most common* C:lin?ed+
, FreDuent "alling* di_culty clim)ing stairs* hop (addle* !ro(i#al ## wea@ness
6Go(er sign7* pseudohypertrophy* cardio#yo!athy0 4es!iratory failure is V0
cause o" death+
, &ec@er' li?e D&D )ut less severe 6thin? older ?id* e+g+ 0/* (ith ne( (ea?ness* also F!57
, Eyotonic muscular dystrophy is V/' autoso#al do#inant+
X Inverted 9:shaped upper lip* thin chee?s* wastin" o" te#!oralis muscles* narrow
head+ hi"h+ arched !alate+ Distal muscle (ea?ness leads to trou)le (al?ing :
also speech di_culties* GI pro)lems* endicrine pro)lems* immune de@ciencies*
cataracts+ intellectual i#!air#ent* cardiac pro)lems
, S,45E C7 6elevated7* DN% analysis o" peripheral )lood to diagnose
*enetic Diseases
Disease
=nheritan
ce
*enes Presentation Patholo"y
'untin"tonDs
Disease
%ut:dom
Chromosome K
6C%G repeats in
huntingtin7
Chorea* depression /
)ehavioral changes*
dementia
%trophy o" caudate
6f G%G%ergic
neurons7
:erdni"-
'o>#an
%ut:rec
Floppy )a)ies* tongue
"asiculations* death L
Qmo
Degeneration o"
anterior horns
6>&Ns only7
.riedrichDs
ata(ia
%ut:rec Frata5in gene*
G%% repeats*
Gait / "alls / diabetes
nystagmus /
Dorsal columns /
lateral CS8 /
61
Chr O
dysarthria / D& /
cardio#yo!athy /
?yphoscoliosis
s!inocerebellar /
dorsal root
"an"lia
<hy!ore$e(ic7
,!isodic Ata(ia
Grie" episodes o"
ata5ia / nausea /
vertigo

S!inocerebella
r ata(ia 6SC%7
%uto:dom
9arious* mostly
C%G repeats
#rogressive gait /
dysarthria in early
adult li"e g other
neuro a)normalities*
mild / moderate
cognitive decline late

Eetachro#ic
leu@odystro!hy
%ut:rec
>ysosomal
storage
6arylsulfatase
A de@ciency7
!ro"resive ata(ia*
(ea?ness* !eri!heral
neuro!athy. macular
lesions 6gray7
Demyelination 6S
sul"atides ::H f
myelin sheath7
Charcot-Earie-
)ooth
6!ereditary
motor & sensory
neuropathy7

De"ective
production o"
myelin sheath
proteins
%dolescence.
progressive*
symmetric distal
muscular atrophy
6legs / "eet h hands7*
ha##er toes !es
cavus
C&8:/ is a5onal
motor* others
demyelinating
Neurocutaneous disorders <!ha@o#atoses/
Stur"e-:eber
Spontaneous*
chr 2
Port-wine stains <nevus ;ammeus/+ ipsilateral
leptomeningial angiomas+ Glaucoma* sR* hemiparesis*
mental retardation+ Can use !ulsed dye laser
thera!y to "ade port:(ine stain+
)uberous
sclerosis
%ut:dom (ith
varia)le
penetrance
!amartomas 6CNS* s?in* organs7* cardiac
rhabdo#yo#as* renal angiomyolipomas* giant cell
astrocytomas* E4 in B5P* sR* ash-leaf s!ots+
sebaceous adeno#a* sha"reen !atch*
N. ty!e 1 <von
4ec@lin"hausenDs
d9/
%ut:dom* chr
1V
CafZ-au-lait spots* lisch nodules 6pigmented iris
hamartomas7* neuro@)romas 6s?in7* "lio#as
e!endy#o#as
N. ty!e 2 Chr 22
Eenin"io#as+ "lio#as* bilateral acoustic
neuro#as
Von-'i!!el- %ut:dom+ chr 2 Cavernous he#an"io#as 6s?in* mucosa* organs7*
62
%indau d9
4CC* he#an"ioblasto#a 6retina+ )rain stem*
cere)ellum7
DD5 o" Sturge:<e)er includes P'AC, syndro#e : posterior "ossa mal"ormations* hemangiomas*
arterial anomalies* coarc o" aorta* eye a)normalities

Post-infectious wea@ness
Disease ,tiolo"y .eatures
AD,E
#ost:infective
6chic?enpo5* measles7 or
post:vaccine 6ra)ies*
smallpo57
#erivenular in;ammation* demyelination post:
in"ection+ %)rupt onset* monophasic+ Fever* !/%*
dro(siness* sR* coma. can have hemi/paraplegia* CN
palsies as (ell
*&S8 A=DP
#ost:campylo)acter or
herpesvirus 6C&9 / EG97
%ntiganglioside %) 6G&0* others7. ascending motor
paralysis g sensory* hours/days* g autonomic
dys"unction* o"ten pain
>#' albu#inocytolo"ic dissociation
I9IG / #>EC eDually efective* steroids donPt help
C=DP [
#ain* res!onds to steroids 6^127* can rela!se*
slowly evolving (ith are$e(ia i#!aired
vibration+
Eiller-
.ischer
GGS variant N post
infectious
%nti GY0) %)* ata(ia+ are$e(ia+
o!hthal#o!le"ia. proprioceptive loss 6not
cere)ellar dys"5n7* usually self li#ited "ood
!ro"
'earin" loss8
, sually d5 )y severe lan"ua"e delay 6e+g+ no )a))ling )y ^ months E get audiolo"ic
evaluation/
, Nor#al 61:4 d) threshold7* mild 6/4:I1' lose some speech sounds7* moderate 6I1:41'
most speech indiscerni)le7* severe* pro"ound 6HQ1d)7
Sensorineural' congenital or acDuired
, Con"enital
X [18 :aardenbur" syndro#e 6aut:dom* white foreloc@ partial albinis#*
deafness+ lateral displacement o" inner canthi* heterochromic irises* medial
eye)ro( ;are* )road nasal )ridge7
X [28 &ranchio-oto-renal syndrome' hearin" i#!air#ent* preauricular !its*
)ranchial Fstulas* renal impairment* e(ternal ear a)normalities
X Al!ort syndrome' ne!hritis* progressive renal "ailure* SN hearin" loss* ocular
a)normalities
X Do(n syndrome* neuro@)romatosis* Nervell%an"e-Neilsen 6also congenital
63
!rolon"ed M)7+ !unter/!urler syndromes as (ell+
, AcJuired8
X =nfections8 CEV V0* also to5o* ru)ella* syphilis* GGS/strep pneumo in"ection
X Dru"s' a#ino"lycosides* loo! diuretics* chemo 6cis!latin7* lead* arsinec*
Duinine
X ,(ternal' trauma* "5* EC&O* radiation* loud noise e5posure
Conductive8 otitis* anatomic lesions* etc+
Newborn screenin"' usually use 1A, 6easier )ut more "alse positives7 "ollo(ed )y A&4 to
con@rm a)nl results
, Eandatory )e"ore 0 mo o" age 6usually done in nursery7
, 'i"her rates in patients (ith AP*A4 3 or less A 0 min* B or less at 4 minutes. also "
h5 childhood SN!>* C&9/ru)ella/syph/herp/to5o* cranio"acial a)normalities* birth wei"ht
K 1500* hyper)iliru)inemia reDuiring trans"usion* mechanical vent H / days+
, ,arly intervention is @ey8 )etter outcomes+ can @t hearin" aid i" H /mo* cochlear
i#!lant (hen /yrs-
1ncolo"y
'e#atolo"ic #ali"nancies
%eu@e#ias in "eneral8
, S5' lethar"y+ #alaise+ anore(ia days / (?s )e"ore d5. bone !ain arthral"ias
6leu?emia in marro( cavity7* !allor 6normocrhomic* normocytic anemia (ith lo( retic
count7* ecchy#oses !etechiae 6throm)ocytopenia7* he!atos!leno#e"aly cervical
%AD at D5+
, Get C&C with di> & blood s#ear* $ow cyto#etry to type+ &one #arrow b( is gold
standard+
Acute leu@e#ias' ^Q2 o" all childhood leu?emias+ rapidly "atal i" untreated* )ut cura)le+
, Acute ly#!hoblastic leu@e#ia <A%%/'
X &ore common 6Q427* increased ris? (ith ata5ia:telangiectasia* C>%* SCID* >I %>>
a/( EG9+
X 'y!erleu@ocytosis 6<GC H /11*1117 E vascular stasis 6esp i" H I11?7 : )ad=
&ental status changes* !/%* stro?e* hypo5emia* etc+ Can use hy!erhydration+
leu@o!horesis to t5
X 8reatment o" %>>' induction o" remission*consolidation to ?ill more cells 6incl
intrathecal methotre5ate7* interi# #aintenence 6less intense7* delayed
intesiFcation 6another intense round7* #aintenence 6ongoing* to maintain
remission7
\ !igh ris? o" tu#or lysis syndro#e 6hyperricemia* hyper#hos*
hyperF7 : give $uids+ al?alaniRe urine* give allo!urinol "or high uric acid* aid
elimination o" 7!hos
X <orse prognosis i" L10y+ K1yr+ :&C L 50@ C d(+ !hiladel!hia chro#oso#e+
hyperploidy
64
, Acute #yeloid leu@e#ia <AE%/'
X >ess common 6/427 than %>>* pea? in adolescence* (hiteE%%
X &ay develop chloro#a 6so"t tissue tumor7 in spinal cord* s?in
X Can also have hy!erleu@ocytosis as a)ove+ Feep !) 3 01g/d>* plt H /1*111
X 8reatment is #ore intensive than %>>
X Increased ris? (ith congenital )one marro( "ailure states li?e Shwach#an-
Dia#ond 6e5ocrine pancreatic insu_ciency and neutropenia7 and Dia#ond-
&lac@fan 6congenital $GC aplasia7* e5posure to )eneRene* al?ylating agents
X Acute !ro#yelocytic leu@e#ia E &I su)type. hi"her survival rate* retinoid
"ene translocation 6retinoic acid part o" t57* higher in latinos* )etter prognosis
overall+
Chronic leu@e#ias' only I2* more indolent )ut can develop to )last crisis+ CE% in
adolescents* )ut rare
=ncreased leu@e#ia ris@' 8risomy /0* "anconi anemia* Gloom syndrome* t(in (ith leu?emia*
chemo / ioniRing radiation "or 0st malignancy+
%y#!ho#as
Non-'od"@in8
A )-cell' a/( #ediastinal #ass* can have SVC syndro#e as a result
W lympho)lastic 6pre:G7* anaplastic types
A &-cell' o"ten involves bone+ isolated %Ns+ s@in
W lympho)lastic 6pre:G7
W &ur@itt ly#!ho#a' rapid gro(th* can have tumor lysis syndrome even )e"ore
chemo=
\ Sporadic' a)d tumora/( nausea* emesis* intussusception
\ Epidemic' Ja(* or)it* ma5illa* more de@nitely ,&V associated
\ C-#yc translocation
'od"@in' childhood* young adult* older adult "orm. bio#odal e!ide#iolo"y 604:I1* then H417
, Painless+ rubbery cervical ly#!hadeno!athy in U12* i also have #ediastinal %AD
, & sy#!to#s8 une5plained fever+ drenching ni"ht sweats+ unintentional wt loss 6H
012/Mmo7
, Dia"nosis8
X Get a chest radio"ra!h to loo? "or mediastinal mass. (ill guide ho( )5 done
6anesthesia[ need to protect air(ay i" impinged upon[7
X &io!sy ne(t' loo? "or 4eed-sternber" cells0 Fe(er is )etter "or prognosis
6ly#!hocyte !redo#inance has )est prognosis7+
, Sta"in"' depends on (here involvement is 6single >N* more* )oth sides o" diaphragm*
disseminated* G:s5[7
, )reat#ent' can )e che#o co#bos -/: C$8 depending on stage* other "actors+
Che#o dru"s and their side e>ects
, Al@ylatin" a"ents cross lin@ers
X Cyclo!hos!ha#ide : he#orrha"ic cystitis+ S=AD'* cardiac to5icity* in"ertility
X =!hos!ha#ide : he#orrha"ic cystitis+ also renal ototo(icity* in"ertility
65
X Cis!latinu# 6platinates* doesnPt al?ylate* )ut cross:lin?s7 : ototo(icity+ renal
to(icity* late nausea
, Anti#etabolites
X Eethotre(ate 6dihydro"olate reductase inhi)itor7 : mucositis* hepatic/renal to5*
neuroto(ic
X Eerca!to!urine+ thio"uanine 6)loc? purine synthesis7 : mucositis* hepatic
to5icity
X Cytarabine 6inhi)its DN%pol7' mucositis* ;u:li?e s5* ocular to(icity
, Plant !roducts
X Vincristine 6microtu)ule inhi)itor7 : S=AD'* neuroto(icity* constipation
X ,to!oside 6DN% strand )rea?s7 : mucositis* in"usion r5n* secondary leu?emias
X As!ara"inase 6asparagine depletion7 : coa"ulo!athy+ !ancreatitis+
ana!hyla(is
4etinoblasto#a8 malignant tumor o" em)ryonic neural retina+ Chr 12J13 mutation 64&1/
, B0P s!oradic+ rest hereditary 6high )ut incomplete penetrance7+ &ilat 6/427 E
hereditary0
X -f parent has unilateral rb / known mutation or bilat rb, screen at birth &ophtho, /
reg intervals until 6-5 "5o
, _ in K 2 year olds* O5P )e"ore age 5+
, D5' leu@ocoria 6a)sent red re;e57+ Get ophtho eval. may need &$I* etc+
X DD7 of leukocoria includes congenital cataract, medulloepithelioma, 8o7ocara
endopthalmitis, persistent h"perplastic primar" vitreous, %oats disease * a$nl development
of $lood vessels $ehind retina,
, 85' varies' enucleation* chemo* local therapy 6laser/cryo7* radiation+ depends on e5tent o"
disease+
, I" heriditary for#* higher ris? "or soft tissue sarco#as
Neuroblasto#a8 postganglionic sympathetic nervous system malignancy. childhood* em)ryonal
, >ocation' abdo#en 6Q12 : most o"ten adrenal medulla. also retroperitoneal sympathetic
ganglia7* thoracic cavity 6posterior mediastinal ganglia7* head/nec@ 6cervical sympathetic
ganglia7
, U2 all childhood cancers 3 04yrs. mean age A d5 1V-22 #onths
, Etiology un?no(n* may )e related to other neural crest cell disorders 6!irschprung* NF:0*
pheo7
, #resentation' Abd8 smooth* hard* nontender a)dominal mass. dis!lace @idney
"or(ard/do(n+ Can get abd !ain+ ')N i" compressing renal vasculature+ Chest8
respiratory distress+ Nec@' !ornerPs syndrome* palpa)le mass+ E5%)=M5AD4AN)
abdo#inal #ass
, Eets8 lymphatic* hematogenous+ <t* loss* "ever* )one marro( "ailure 6pancytopenia7*
cortical bone pain :H li#! 6!utchinson syndrome7* liver in@ltrate :H he!ato#e"
6pepper syndrome7* !eriorbital in@ltration 6proptossis* ecchymoses E Bracoon eyes-/*
>N enlargement* s@in in@ltration 6palpa)le nontender su)cutaneous blue nodules7+
, #araneoplastic' can see (atery diarrhea 6V=P secreting7* o!soclonus-#yoclonus too
, D5' Send urinary VEA+ ho#ovanillic acid 6catechols7* get )5
, Pro"nosis' stage (ith INSS 6international neuro)lastoma staging system : IElocaliRed &
e5cised . I E localiRed* not e5cised* III E tumor )eyond midline 6incl+ contralateral >N
66
involvement7* I9 E distant mets* I9S E age 3 0 - mets* (ith primary tumor that (ould
other(ise )e I or II+ I* II* I9S have )etter prog than III/I9+ Gest prog "or in"ants 3 0+ N-#yc
has (orse prognosis+ 85 (ith che#o+ sur"ery+ radiation+ biothera!y* etc+ as needed+
:il#s tu#or' V0 renal tumor in ?ids* neoplastic em)ryonal renal cells "rom metanephros
proli"erate
, 11!12 6<807 and 11!15 6<8/7 are most common genes+
, most unilateral. Q2 )ilateral. most K 5 years old A d5
, Associations' sporadic aniridia+ he#ihy!ertro!hy+ cry!torchidis#+ hy!os!adius+
other G a)normalities+ &ec@with-:iede#ann <hemihypertrophy* macroglossia*
omcephalocele* G a)normalities7* Denys Drash 6congenital nephropathy* <ilms*
interse5 d/o7* :A*4 6<ilms* aniridia* G a)normalities* mental $etardation7* and
Perl#an syndrome 6unusual "acies* islet cell hypertrophy* macrosmia* hamartomas7 are
related+
, .eatures8 as( abd #ass* usually "ound )y parents+ %)d pain / "ever E may have
hemorrhaged into tumor+ &icroscopic or gross he#aturia in II2* ')N in /42 6renin
secretion )y tumor or compression o" renal artery7+ Can get varicocoele 6i" spermatic vein
cord compression7 too+ v<D also U2+
, &anagement' Get abd ultrasound* then C)+ then )5 6usually at time o" removal7+ 8reat
(ith sur"ical re#oval o" ?idney. assess contralat idney "or spread+ Chemo and/or
radiation depending on staging
, Good prognosis i" small tumor* patient H / y/o* good histology* no >N mets / capsular
invasion
, Ana!lastic+ clear cell+ rhabdoid histology may necessitate diferent treatment
Soft tissue sarco#as'
, 4habdo#yosarco#as E 412+ %ssociated (ith N.+ %i-.rau#eni syndromes+ V0 S8S in
?ids 3 01 yrs7
X t6/.0I7* t60.0I7 translocations+
X Can )e e#bryonal or alveolar su)type+ I42 in head/nec?* //j in G sites* /12
in e5tremities+
, Non:rha)domyosarcomas' heterogenous group+ Fbrosarco#a is V0 S8S in ?ids H 01 yrs+
X Include nerve sheath tumors 6malignant* congenital (ith NF:07 )ut also @)rous
histiocytomas* leiomyosarcomas 6a"ter radiation "or prior tumor7
&one )u#ors
)u#or Patient !resentation %ocation D( Co##ents
,win"
Sarco#
a
&ostly adolescents*
EHF 60+457* very rare in
%%+ Pain+ locali9ed
swellin" at site o" tumor
- fever+ wt loss+
fati"ue i" mets
.lat and lon" )ones
6"emur* pelvus H
@)ula* humerus*
ti)ia7+ O"ten
#idshaft
$ad' lytic (ith
calciFed
!eriosteal
elevation 6Bonion
s@in-/0 Get )5
chr 11-22
translocation+ 85'
rad/surgery -
che#o 6almost all
pts have
microscopic mets7+
i" no mets* 4yr H
MM2
67
1steo-
sarco#
a
&ostly adolescents+
ELF 6/57* most during
pea? gro(th velocity+
#ain* localiRed s(elling
)ut rarely syste#ic
#anifestations+ O"ten
attri)uted to trauma
6"ait distrubance+ f(
common7
&edullary cavity /
periosteum* at
#eta!hysis o" )ones
(ith )ig gro(th
velocity 6distal
fe#ur+ !ro( tibia+
!ro( hu#erus/
$ad' lytic (ith
!eriosteal
reaction
6in;ammation*
radial sunburst as
tumor )rea?s
through corte57+
Get C) chest "or
pulmonary mets*
bone scan too+
Clinical #ets in
/12. msotly lungs.
almost all others
have microscopic
mets+ 85' Sur"ical
re#oval* resistant
to radiation E
neoadJuvant -
adJuvant chemo+
>ong:term relapse:
"ree survival HQ12
1!hthal#olo"y
Strabis#us' misalignment o" eyes+ )ransient strabis#us OF until 3 #o age+
A 3P @ids have stra)ismus* more common in C#* Do(nPs* hydrocephalus* )rain tumors
, Esotropia E in(ards* e5oEout(ard* also up(ard/do(n(ard+ D5 (ith li"ht re$e(+ cover-
uncover tests
, %m)lyopia* reduced steropsis 6depth perception7 can result+
, 85' reali"n 6medical* surgical intervention7* earlier is better "or chances o" normal
acuity/alignment
A#blyo!ia8 reduced vision in otherwise nor#al eye 6/:42 ?ids* most suscepti)le )irth :
Qyrs+ Ealier E (orse7
, Strabis#ic 6II27' suppress retinal images "rom misaligned eye* i" child younger than K:M
yrs
, Aniso#etric 6II27' uneDual re"ractive erros in eye. )lurred retinal image
, $est are mi5ed mechanism+ %ll can lead to permanent vision loss+
, 85' correct re"ractive errors (ith glasses* @5 cataracts* etc+ $estore alignment i"
stra)ismic+ 8hen occlude )etter:seeing eye to "orce visual development in afected eye+
)( L S yo is unli?ely to )e success"ul
%eu@ocoria' DD5'
A retinoblasto#a <li"e threatening. see onc section7
A cataracts 6most common cause* 0'/41 ne()orns* congenital or acDuired : in"ection* etc+
85 (ith surgical removal. remove )e"ore /:I mo age to prevent irreversi)le am)lyopia7
A retino!athy of !re#aturity 6retinal vascular disease* O/ e5posure* 9>G< preemies+ 85'
many regress spontaneously. lasar a)lation o" retina or cryotherapy can reduce
progression to retinal detachment7
A %lso congenital glaucoma* o5ular to5ocariasis 6parasitic* o"ten acDuired7
Nasolacri#al duct obstruction' causes chronic over$ow tearin" in a)sence o"
conJunctivitis in /42 neonates+
, Failure o" distal mem)ranous end o" nasolacrimal duct to open+
, I" mucopurulent discharge* tenderness o" lo(er li)* thin? dacrocystitis <superimposed
in"ection7. use (arm compress* nasolacrimal massage* occasionally 0st gen
68
cephalosporins
, $esolves spontanously )y 0 y/o in ^M2+ $e"er i" s5 persist+ %t 0/:04mo* pro)e
nasolacrimal duct+
=nfantile "lauco#a' classic triad o" tearin"+ !hoto!hobia+ ble!haros!as#+ &ay see one
eye enlarged=
, Can )e isolated or a/( con"enital rubella* NF:0* sterge (e)er* mar"an* others
1!thal#ia neonatoru# ' conJunctivitis in 0st month o" li"e+
, Ocular discharge in neonate E evaluate 6tears absent in @rst "e( (ee?s o" li"e7
, #resentation' eyelid edemia* conJunctival hyperemia* ocular discharge+
, DD5 o" most common causes )elo(. also !S9* S+ aureus* !+ ;u* pseudomonas 6a"ter 0st
(ee? o" li"e7+ 85' re"er i" gonococcus* !S9* #+ aeurg* or i" signs (orsem / s5 perist H I
days+ %lso 85 parents / partners i" S8D=
, #rophyla5is' ,rythro#ycin dro!s 6C+ trach* N+ gonorrhea7+
1nse
t
.eatures Co#!lications D( )reat#ent
Che#ical 23h
)ilat* serous
discharge*
conJunctival
hyperemia
Sel":limited
E5clude other
causes
None
N0
"onnor0
2-3d
)ilat* !rurulent
discharge* eyelid
edema* chemosis
se!sis+
#enin"itis+
arthritis+ corneal
ulceration*
)lindness
conJunctival
c5 6chocolate
or 8hayer:
&artin7
)o!ical
erythro#yci
n+ =V
cefota(i#e+
treat parents
C0 trach
3-
10d
unilat or )ilat
#uco!urulent
discharge*
conJunictival
hyperemia
corneal scarring*
!neu#onia
conJunictival
Chlamydial c5
1ral T
to!ical
erythro#yci
n`* treat
parents
k remem)er that syste#ic erythro#ycin in neonatal !eriod has )een lin?ed to
hy!ertro!hic !yloric stenosis
=nfectious Con6unctivitis 6#in? Eye7
, DD(8 %ll have difuse inJection* normal vision
X Viral' pain mild* clear mild/copious discharge* can crust* usually no itching* normal
vision+ adenovirus+ ,C'1virus+ co(sac@ievirus are common etiologies
X &acterial' mild/moderate pain* #ildco!oius #uco!urulent discharge (ith
de@nite crusting* no itching+ '0 $u+ S0 !neu#o+ N0 "onorrhoeae can )e culprits
X Aller"ic8 no pain* clear discharge (ith mild/moderate discharge* no crustin" )ut
with itchin"0 Seasonal !ollen or other allergens can )e etiology
, O"ten treated (ith ab( dro!s oint#ent 5 4:Qd 6polymiy5in:)acitracin* 8&#:polymy5in
G* gentamicin* o;o5acin7. can culture o" re"ractory+ Sel":limited diseases* )ut a)5 limit
in"ectivity* decrease duration )y / days+ Some e5ceptions'
69
X I" N0 "onorrhoae : need !arenteral ceftria(one+
X I" '0 $u and ipsilateral otitis media* treat "or otitis+
X Do N1) give a)5 drops (ith steroids i" !S9:0 is cause 6more severe disease* visual
impairment7+
, Dd5 includes corneal abrasions 6red* pain"ul* tearing. sensitive to light* use slit la#! T
$uorescine to see* treat (ith eye !atchin" -: topical a)5* should heal (ithin /Kh7
Styes8 Chala9ion vs 'ordeolu#
, Chala9ion' sterile lipogranuloma o" mei)omian gland in tarsal plate+ Firm )ut
nontender+ E5cision sometimes reDuired. can )e chronic / recurrent+ >id hygeine can
help+
, 'ordeolu#' infection o" mei)omain gland 6internal7 or se)acoues gland around eyelash
"ollicle 6e5ternal7+ S0 aureus usually+ >ocal* tender swellin" ::H rupture to outside+ 85
(ith war# co#!resses. I&D or systemic anti)iotics i" cellulitis develops+ little value "or
ophthalmic a)5
Periorbital <!rese!tal/ cellulitis '
, #reseptal' no limitation o" eye movements+ sually "rom s?in )rea?s 6S0 aureus+ "rou! A
stre!7* hematogenous 6S0 !neu#o+ '0 $u7* inect )ites* or sinus in"ection 6S0 !neu#o+
'0 $u+ E0 cat/+
, D5' war#+ tender+ indurated s?in without eye !ain around eye+ -/: "ever 6i"
hematogenous7 & signs o" etiologies a)ove+ Get ># i" suspicious "or meningitis+
, 85' =V ab( as soon as possi)le+ I" a"ter )rea? in s?in* PCNase-resistent PCN or 1st "en
ce!halos!orinG may need 9anc i" concerned "or &$S%+ Other(ise use cefuro(i#e or
Ird gen cephalosporin i" concerned "or meningitis+ S(itch to #O to complete 10 day
course (hen symptoms go a(ay+
1rbital cellulitis8 this is an ,E,4*,NCQ
, In"ection )ehind or)ital septum+ Severe pain (ith eye movement* proptosis* vision
changes* decr+ EO&
, Get C8 scan "or d5* loo? "or spread o" in"ection+ &ay have or)ital a)scesses 6drain7
, Organisms' S+ aureus* S+ pyogenes* S+ pneumo* !+ ;u* &+ cat* anaero)es in upper resp
tract
, Start e#!iric =V ab( 6ce"uro5ime* -clinda i" concern "or anaero)es* or amp:sul)actam7 5
2 w@ course total 6can s(itch to #O (hen symptoms go a(ay7+
, Gad seDuelae' )rain a)scesses* meningitis* cavernous sinus throm)osis 6rare )ut serious7+
1rtho!edics
Develo!#ental dys!lasia of the hi!' dislocation : aceta)ulum doesnPt develop as cup : head
o" "emur out "arther
, &ore common in )reech deliveries* "amily h5* "emales* 0st)orn children+ %/( clu)"oot*
congenital torticollus* metatarsus adductus* in"antile scoliosis
, D5' Garlo(* Ortolani+ Older in"ants' GaleaRRi sign 6?nees )ent* hips ;e5* loo? "or shortened
lim)7+ $adiographs donPt help until K:M mo 6ossi@cation7. /S is )etter "rom )irth : K mo
, 85' ortho re"erral+ &ost sta)iliRe )y / (?s+ #avli? harness 6a)ducted* ;e5ed hip7 or )ody
70
casting i" older
.oot defor#ities'
, Fle5i)le E more )enign 6i" you can mold it (ith hand* minimal intervention7
, Eetatarsus adductus 6isolated in:toing o" "ore"oot7 : )enign* "rom intrauterine
positioning* an?le Joint range is unrestricted 6restricted in clu)"oot7+ I" in;e5i)le* may need
serial )racing / casting A M:0/m
, )ali!es eJuinovarus 6clu)"oot7 : rare* de)ilitating+ #edial rotation of tibia+ F(ed
!lantar $e(ion at an@le+ inversion of heel+ #etatarsus adductus+ canPt dosi;e5.
"oot more de"ormed. limp - ulceration - calluses+ Need early intervention )e"ore (al?ing=
6serial casting* surgical repair i" "ailed7
Causes of li#!
, )rau#a is V0 at any age+ Other(ise* )y age 6yrs7
X 0:I' in"ection* in;ammation* paralytic syndromes
X I:01' >:C:#* to5ic synovitis* WI%
X #u)ertal' SCFE
, %e""-Calve-Perthes ' avascular necrosis of fe#oral head* etiology un?no(n+ &ostly
males / younger ?ids 6K:U y/o7 (ith !ainless+ #ildly !ainful li#! developing insidiously*
o"ten re"erred to @nee thi"h+ >imited $O& on a)duction* ;e5ion* internal rotation+
X $adiographs' initially normal* then e!i!hyseal radiolucency+
X 8reat )y contain "emoral head in aceta)ulum* usually ischemic )one is resor)ed
then reossi@cation over /:4 yrs+ O"ten Just o)served i" younger. )race/cast/surg i"
older+ Incr+ arthritis later in li"e
, SC.,8 pro5 "emoral gro(th prate separates. "emur head slips of & rotates into
in"erior/posterior position
X 8hin? overwei"ht !ubertal @ids 6esp males7+ /42 )ecome )ilateral+ No relation
to trauma+
X #resentation' li#!+ !ain 6hip/groin or re"erred to ?nee7+ >im) shortening* limited
internal rotation and $e(ion on e5am+ Get radiographs in fro"-le" lateral
position to see displacement+ 85' !in F(ation acutely. chronic may reDuire
osteoto#y
1s"ood-Schlatter' !ain* s(elling* tenderness over tibial tuberosity+
, From repetitive stress to distal insertion o" patellar tendon on pro5imal ti)ia
, 8hin? adolescent "rowth s!urt 601:04y7
, #ain (orse (ith running* Jumping* ?neeling* sDuatting )ut better with rest+
, 85 (ith activity modi@cation* stretching )e"ore* rest/ice a"ter activity. casting "or up to M
(?s i" severe. lo( long:term mor)idity
&lount disease' )o(legs 6genu varum7 that !ro"ress I worsen* can )e unilateral
, a)normality in #edial as!ect of !ro(i#al tibial e!i!hysis
, Physiolo"ic genu varum should straighten )y 2 years old
Scoliosis' lateral curvature. idiopathic mostly. hereditary "actors+
, Screening is ?ey+ Severe E )racing* surgery 6FH& )y U57+ During gro(th spurt* most
71
progressive+
, &ostly Just screen i" minor+ Grace i" /4:I1 degrees* surgery i" K4:41*
cardiopulmcompromise i" ^1:011
7y!hosis' posterior rounding o" spine+ O"ten "rom poor posture. #8 vs o)servation as t5+
, Scheur#an disease' in;e5i)le ?yphosis a/( (edge:shaped verte)ral )odies+ Grace /
surgery
Achodnro!lasia' disorder o" cartilage calci@cation* remodeling+ Aut-do# condition+
heteroRygotes' typical phenotype* normal intelligence* se5ual "5n* li"e e5pectancy+
!omoRygotes' )ad outcome 6pulm complications* small "oramen magnum E )rainstem
compression7+
.ractures
Gasic "eatures' ligaments / tendons H )ones "or strength in ?ids* so more )rea?s than sprains /
tears+
, !allmar? is severe !oint tenderness over )one
, 4:012 "5 are invisi)le on initial radiographs 6/:I (?s later7
)y!es of f(
, ,!i!hyseal fractures classi@ed )y Salter-'arris classi@cation+ S:! III/I9 have highest
ris? gro(th disrup
, &ow fracture 6e+g+ greenstic?7 i" )o(ing / )ending (ithout "racture a"ter trauma
, Stress fractures' can )e invisi)le on initial @lms. repetitive "orces 6e+g+ athletes7
, Patholo"ic f(' i" /// OI* malignancy* lnog:term steroids* in"ection* endocrine disorders+
1steo"enesis i#!erfecta' "ragile* )rittle )ones+
, Family o" ?inds* )oth aut:dom & aut:rec* all (ith a)normal ty!e = colla"en+ (ith varia)le
severity
, &lue sclerae and #ulti!le f(* (hich can lead to short stature+
, &anagement' standard "5 care* pneumatic )racing* avoiding even minor trauma+ Some
pts' pamidronate 6inhi)its osteoclast resorption7
Sublu(ation of radial head' BnursemaidPs el)o(T+
, Common* (ith strong Jer?ing o" childPs hand (hen held )y parent+ Child comes in holding
arm close to )ody* el)o( ;e5ed* "orearm pronated* pain on el)o( motion+ $adiographs
normal+
, 85' e5tend el)o(* supinate hand. hear clic? as annular ligament pops into place. ?id )etter
in minutes
)y!ical in6uries in youn" athletes
Swi##in" Shoulder inJuries 6rotator cu> tendinitis and/or supraspinatus muscle
inJury7
.ootball 7nee in6uries 6%C>* #C>* &C>7 common+
)urf toe 6inJury to 0st &8# Joint7 i" arti@cial tur"
'ead+ nec@ inJuries serious )ut rare
72
&ase@etball %ower e(tre#ity pro)lems : 1s"ood-Schlatter* ligament sprains* an?le
inJuries
4unnin" Euscle strains in hamstrings* adductors* soleus* gastroc+
4unnerDs @nee8 anterior ?nee pain )ecause o" !atellofe#oral stress
&allet Delayed menarche* eating disorders are stereotypical
%ower e(tre#ity pro)lems too : bunions+ @neean@le !roble#s "rom
overuse
:restlin" 5!!er e(tre#ity pro)lems' shoulder sublu(ation
%ower e(tre#ity pro)lems' usually !re!atellar bursitis 6traumatic impact
on ;oor7
S@in conditions' contact der#atitis+ su!erFcial fun"al infections+ 'SV
6Bherpes gladiatorumT7* i#!eti"o+ E4SA?
S@iin" S@ierDs thu#b' a)duction & hypere5tension o" thum) ::H sprain ulnar
collateral li"a#ent during "all is V0
'oc@ey Contusions+ lacerations* pretty much any ?ind o" inJury+ >oss o" teeth too+
1steo#yelitis'
, i in "emur and ti)ia in ?ids. o"ten in metaphysis 6)lood stasis* "e( phagocytes7+ 412
neonates (ith osteo have septic Joint as (ell+
, Incidence )imodal' neonatal &EF* older ?ids 6^:007 &HF
, S0 aureus is V0. also *&S,0 coli in neonates* Sal#onella in SCD* !seudo#onas i"
nail thru snea@ers
, !5' "ever* re"usal to move lim). can have localiRed )one pain i" older+
, #E' So"t:tissue s(elling* limited $O&* point:tenderness. can see sinus tracts sometimes
draining pus
, >a)s' <GC can )e normal. 41:M12 )lood c5 positive+ Should as!irate bone before ab(
started to get organism* suscepti)ility* etc+ $ads normal* then pereostial elevation /
radiolucent necrosis A /:I(?s+ &$I is )etter "or imaging+ C4P elevated in O5P 6nl (ithin
Qd o" t57+ ,S4 elevated in ^12 6nl a"ter I:K(?s7+
, 85' =V or hi"h-dose oral ab( "or 3-B w@s+
X Groad:specrum anti:staph* li?e ce"aRolin* na"cillin* o5acillin7+
X Neonates' *&S+ *N4 coverage
X SCD' third-"en ce!halos!orin "or salmonella
X Narro( a"ter organism recovered+ Surgery i" a)scess / seDuestrum "ound
Se!tic arthritis' more common than osteo+ From )acteremia+ 8hin? infants+ youn" @ids
mostly
A #ain"ul Joint* "ever* irrita)ility* re"usal to )ear (eight+ >imited $O&* tender Joint* -/:
s(elling on e5am
A DD5' osteomyelitis* in;ammatory arthritis* reactive arthritis
A >a)s' ta! 6oint0 <GCH /4*111 in Joint ;uid+ o"ten get )acteria too 6)ut GC is harder to
isolate7
73
Neonates
*&S+ ,0 coli+ S0 !neu#o+ S0
aureus
Ce"ota5ime
=nfants H M(?s
Qoun" ?ids
hi!
S0 aureus [1
also 7in"ella @in"ae+ S0 !neu#o
Ce"tria5one
1lder @ids @nee
S0 aureus [1+ also stre!+ "ra#-
ne"s
N0 "onorrhea i" se5ually active
0st//nd gen cephalosporin
or symisynthetic #CN
)ransient <;to(ic-/ synovitis of the hi!' "reDuent cause o" hip pain* stifness in children+
, [in"ectious* o"ten a"ter viral illness+
, $O& limited : present in unilateral fro"le" !osition* have hi! e>usion and !ain on
internal e(ternal rotation )ut child is afebrile and bears wei"ht* ,S4 3 K1* lo(
C$#* :&C K 12@ 6vs septic arthritis7
4eactive arthritis' thin? chla#ydia* also a"ter enteric bacteria 6yersinia* salmonella*
campylo)acter7
, happens wee@s afterwards 6?id (ho has arthritis (ho had diarrhea (?s ago=7
%lso on dd5 o" arthritis' leu@e#ia 6(t loss* appetite decreasing* nose)leeds "rom
throm)ocytopenia* bone !ain7
Psych
AD'D : needs to )e present in #ore than one settin" and start before V yrs old+ B#oT of
s(
Inattentive* hyperactive* and com)ined types+ DD5 vs a)scence sR+
Send Duestionnaires to parents* teachers+
se si#ulants 6methylphenidate* de5troamphetamine7. ato#o(etine 6NE reupta?e
inhi)itor* less tics associated7* also bu!ro!rion* i#i!ra#ine / nortri!tyline /
!e#oline0 Q12 respond
Comor)id o!!ositional deFent disorder 6most common7 / conduct disorder is
common. also comor)id learning disa)ilities+ send for full wor@u!
)ics I )ourette Syndro#e
, )ics : nonrhythmic* spasmotic* involuntary* sterotyped. any muscle group
X )ransient tic disorder' common* o"ten in )oys. o"ten F!5 : eye blin@in"+ facial
#ove#ents+ throat clearin". lasts "or (ee?s to a year then o"ten resolves. can
)e chronic though
, )ourette syndro#e' li"e:long* #otor T vocal tics "or at least 1 yr (ithout 2 #onths
"ree o" tics* needs to )e a"e K 1S+ causes distur)ance
X obsessive-co#!ulsive )ehavior* high incidence o" AD'D too
X 8reat (ith clonidine 6alpha:/ receptor agonist (hich decreases NE )y acting on
locus ceruleus7
X I" that doesnPt (or?* try atypical antipsychotics
74
Pul#onolo"y
8hings to remem)er' CanPt get #F8s until 4:M yrs+ =ntrathoracic E e(!iratory+ e(trathoracic E
ins!iratory
5!!er airway obstruction
A Neonates : noisy inspiration* increased <OG* retractions+ Sub"lottic E hi"h pitched*
#ono!honic+ Su!ra"lottic E varia)le* ;uttering stridor* varies (ith !osition o" head /
nec?+ #ronounced di_culty during "eeding in in"ants+ 85 )ased on etiology+ I" severe* may
need tracheostomy until de@nitive t5
W Choanal atresia - dangerous 6o)ligate nose )reathers7* better with cryin"+ d5 )y
trying to pass 0M "rench catheter into nose+
W Eandibular hy!o!lasia : leads to glossoptosis 6tongue displaced )ac?(ards7+
%lso ?ids (ith )ig tongues 6trisomy /0* macroglossia in G:< syndrome7
W Vocal cord !aralysis' uni / )ilat* can )e congenital )ut more "reDuently acDuired+
!oarse voice too
W %aryn"eal webs' uncommon* congenital lesions. cause respiratory distress in
delivery room* disappears (ith intu)ation
W %aryn"o#alacia' )ig ;oppy arytenoids or epiglottis+ [1 cause con"enital
stridor. resolves over 0:I yrs o" li"e (ith gro(th
W Sub"lottic #asses 6hemangiomas* cysts7+ Sub"lottic stenosis 6acDuired* "rom
prior intu)ation7
W Co#!ression o" upper air(ay )y ano#alous vessel
A 1lder @ids' acJuired lesions )ecome more li?ely+
W 8hin? enlar"ed tonsils+ adenoids 6esp during viral $I7* forei"n bodies*
infections 6acute laryngotracheitis* peritonsillar / retropharyngeal a)scesses* etc+
W 1bstructive slee! a!nea' daytime somnelence* poor gro(th* )ehavioral pro)lems
\ #ic?(ic?ian syndrome' i" leads to chronic hypoventilation. o"ten in
o)ese ?ids
\ Get polysomnography. normaliRe air(ay anatomy 6remove tonsils /
adenoids i" needed7
\ C#%# an option i" other interventions "ail. i" untreated* severe OS% can
lead to C!F / death=
Asth#a'
, <heeRing ?ids' consider also in;ammation / "ailure to clear secretions 6)ronciholitis* GE$
(ith aspiration* CF* 8EF* primary cystic dys?enesia7* intraluminal mass 6"oreign )ody*
tumor* granulation tissue7* dynamic air(ay collapse 6tracheo)ronchomalacia7* e5trinsic
compression 6vascular ring* mediastinal >N/mass7
, 4ule of 2s'
X sy#!to#s /5/w@ 6or less7
X ni"htti#e a(a?enings /5/#onth 6or less7
X short-actin" beta-a"onist /5/w@ 6or less7
X "e(er than 2 e(acerbations needing corticosteroids in last B #onths
X (ith no inter"erence (ith normal activity is BintermittentT asthma* )etter control+
6e5ception : no nighttime a(a?enings allo(ed in ?ids* 1:0 e5acer)ations per year7+
X %dditionally* FE90 )et(een e5acer)ations should )e H U12 predicted. pea? ;o( H
75
U42
, Ste!wise thera!y'
X I" (ell controlled* chec? up D0:Mmo+ I" (ell controlled H I mo* consider step do(n
X I" not (ell controlled* step up & re:evaluate in /:M (?s
X I" very poorly controlled* consider short:dose oral corticosteroids* step up 0:/ steps*
re:eval / (?s
X %ll steps get S%G% #$N+ 8hen add lo( dose ICS ::H medium dose ICS / add >%G%*
>8$%* or theophylline 6either order7 ::H high dose ICS - >%G% ::H add oral
corticosteroids
, !igher ris? o" death' noncompliance* poor recogn+ o" s5* delay in 85* h5 intu)ation* %%*
steroid dependence
, )he !athway' acute e5acer)ation
X 2( nebs8 albuterol T atrovent <co#bi/* then albuterol* then albuterol T
atrovent
X 2 #"@" steroids 5 4 days
Cystic .ibrosis' disordered e(ocrine "land function is hallmar?* leading to abnor#al
viscid secretions
, From C.)4 Cl channel mutation on chr V 6sur"ace o" epithelial cells : gets seDuestered
inside cell7+
, Aut-rec. most "reDuent in Caucasians* Q42 "rom deltaF41U mutation
, %lso canPt )ind #seudomonus in lungs. decreased NO production 6e5aggerated
in;ammation7
, Screen (ith pancreatic i##unoreactive try!sino"en <=4)/ test 6)lood spot screening7 :
elevated in CF
X False negatives possi)le* so do more testing i" ne()orn screen negative & high susp
6mec ileus* etc7+
, .indin"s8 nasal !oly!s 6test these ?ids "or CF=7+
X In"ections8 S0 aureus+ '0 $u early in childhood ::H P0 aeur" in late childhood /
early adolescence* &ur@holderia ce!acia is really ominous 6accel+ pulm+
deterioration* early death7
X GI8 !ancreatic insuXciency* )o(el o)struction* rectal prolapse* dia)etes* hepatic
cirrhosis+ Decreased fat absor!tion 6pancreatic loss7 : large* )ul?y* "oul:s(elling
stools+ O"ten see failure to thrive as initial mani"estation+ Eeconiu# ileus too
6no stool passage* vomiting / a)d distention* distended )o(el loops* )u))ly pattern
in intestine (ith narro( colon on a)d 5:ray* sur"ical e#er"ency?/
X #ulm' (heeRing* air trapping* o)structive #F8s* chronic sinus disease
X *5' o)structive aRoospermia in males* reduced "ertility in "emales+
, D5' sweat chloride test* genetic/prenatal testing
, 85' airway clearance 6chest #8* )ronchodilators to rela5 smooth mm* a)5 to clear
in"ections* decrease in;ammation7+ %lso reco#bi hu#an deo(yribonuclease 6)rea?s
do(n thic? DN% comple5es7+ %lternate months o" inhaled tobra#yicin inhaled "or
#seudomonas:in"ected people+ lun" trans!lant i" li"e e5pectancy 3 0:/yrs* 412 survival
post transplant A 4 yrs+
, SeJuelae warnin" si"ns
X 'e#o!tysis E alarming i" severe )roncihectasis 6can erode into arteries. "ran?
)lood loss7+
76
X S!ontaneous P)Y alarming too+ Need to place chest tu)e. pleurodesis 6o)literate
pleural space7 to prevent recurrence+
X Can get chronic !ul#onary ')N+ cor !ul#onale i" advanced disease+
Pri#ary ciliary dys@inesia' aut-rec group o" diseases. cilia donPt (or? E )ad mucociliary
clearance
, $ecurrent bronchial obstruction+ sinusitis+ chronic otitis #edia+ recurrent res!
infections
, S5 similar to CF* asthma
, D5' a)normal ciliary )eat under light microscopy or microsopic e5am o" ciliated cells in
nose* )ronchi
, 85' simlar to pulmonary CF components* although not the same #+ aeurg propensitiy+
4estrictive lun" diseases' much less common in ?ids
, #ectus e5cavatum 6depression o" sternum7 or carinatum 6out(ard7* i" severe
, Neuromuscular disease 6GGS* muscular dystrophy* S&%7
, Gig lesions occupying intrathoracic space 6e+g+ diaphragmatic hernia* etc7
, =%D' rare0 Sarcoid* desDuamative interstitial pneumonitis* etc+
=dio!athic !ul#onary he#osiderosis <=P'/8 post difuse alveolar hemorrhage. idiopathic or
(ith )leeding disorder. see he#osidin-laden #acro!ha"es 6siderophages7 in )ronch
(ashings+ %n e5ample o" an =%D
, Consider in ?ids (ith fever+ res! distress+ CY4 Fndin"s that loo? li?e #N% : )ut @ndings
clear ra!idly* ?ids have lots of recurrent ;PNA- and signs li?e clubbin" that point to a
chronic process+
, %lso see #icrocytic hy!ochro#ic ane#ia+ low seru# .e+ occult blood in stool
6s(allo(ed pulmonary secretions7+ Get bronchoalveolar lava"e+
, Su)set have hypersensitivity to cowDs #il@ 6;'einer syndro#e-7 & improve of o" mil?
A!nea of infancy ' any cessation of breathin" that lasts "or 20 seconds or #ore* or
involves color changes 6cyanosis or pallor7* hypotonia* decreased responsiveness* )radycardia+
treat underlying disorder 6in"ection* neurologic* respiratory* cardiac* GE$D* a)use7+
A A%), i" parents )elieve could have )een "atal
A management' treat underlying disorder+ Can put on ho#e #onitor (hich (ill sound
alarm "or apnea* )radycardia* )ut donDt reduce S=DS li@elihood 6since apnea does not
raise SIDS ris?7+
4enal
*lo#erular disease
Ne!hritic syndro#es' thin? red cell casts* edema* mild !8N* hematuria* etc+ Can use Ca:
channel )loc?ers "or !8N
Classic !resentation %ab features Notes
77
APS*N #ufy eyed ?id* tea:
colored urine* $GCs* mild
!8N a"ter sore throat or
i#!eti"o
low C2+ nor#al C3
#ositive AS1+ anti-
DNAse&
^4:^U2 recover (ell
%)5 donPt decr+ ris?
Steroids donDt hel!
="A
ne!hro!athy
4ecurrent !ainless
he#aturia* usually a"ter
$I
="A i##une co#!le(es
in #esan"iu#
'SP Common cause o"
nephritis* )ut mostly
youn"er ?ids K:4
="A i##une co#!le(es
in #esan"iu#
%u!us
ne!hritis
Can present li?e %#SGN Consider i" hematuria
doesnPt resolve or CI still
a)nl in M:0/(
&eni"n
fa#ilial
he#aturia
Aut-do# 6F!57.
persistent or intermittent
hematuria
G5 normal or thin
base#ent #e#brane0
No progression to
chronic renal "ailure
*ood!asture
syndro#e
Ne!hritis and
!ul#onary
he#orrha"e
<he#o!tysis/
Anti-base#ent
#e#brane Ab 6linear
pattern7
Al!ort
syndro#e
he#aturia 6o"ten as5*
microscopic7+
!roteinuria+ renal
failure+ hearin" loss
Genetic 6o"ten C:
lin?ed7 de"ect in
collagen synthesis E
a)nl )asement
mem)rane "ormation
Ne!hrotic syndro#es' thin? #ar@ed !roteinuria 6H0*111 mg/m//day7. o"ten mostly
albu#in in ?ids+
, can get hy!oalbu#ine#ia and hy!erli!ide#ia 6as liver ramps up production o"
lipoproteins to respond to lo( plasma oncotic pressure7+
Classic
!resentation
%ab features Notes
Eini#al chan"e
Fid (ith !eriorbital
ede#a* then lower
ede#ity ed#a+ wt
"ain+ ascites
Nor#al li"ht
#icrosco!yG
podocyte foot
!rocess e>ace#ent
on E&
V0 cause )y "ar in
?ids
$esponds to steroids
.S*S
Older ?ids (ith
nephrotic syndrome
.ocal 6only some
glomeruli7 &
se"#ental 6only part
o" glomerulus7
#rimary* or 22 '=V or
use o" some drugs
6e+g+ heroin7
Ee#brano!roliferat
ive *N <EP*N/
Older ?ids (ith
nephrotic syndrome
IC deposits in
su)endothelial space
78
::H re)uild G& on top
::H tra# trac@s
Ee#branous
ne!hro!athy
mostly adults
Su)epithelial Bspi?e &
domeT deposits o" ICs
)inding to GG&
Can )e a/( S>E* !G9
&artter syndro#e' aut:recessive condition* a?a 6u(ta"lo#erular hy!er!lasia
, #/< hy!o7+ hy!erCa+ al@alosis+ hy!eraldo+ hy!errenin )ut normal G#
, .)) 6small "or height* (eight7* consti!ation* past episodes o" dehydration (ith really
low seru# 7
, sually present )et(een B-12 #onths+ 8reat to !revent dehydration+ nutritional
su!!ort+ F( 7
Posterior urethral valves
, thin? youn" #ale infant 6onl" males7 (ith dribblin" urinary screen+ lower
abdo#inal #ass+ 5S8 bilateral hydrone!hrosis+ bladder wall hy!ertro!hy+ Older
?ids can have F88* renal dys"unction* 8Is
, get abdo#inal renal ultrasono"ra!hy
, cath the ?id to relieve o)struction. -/: a)5 i" 8I suspected+
, de@nitive treatment' endosco!ic transurethral valve ablation i" Cr OF* urethra )ig
enough
X &ay need vesicostomy i" 8I doesnPt respond or narro( lumen or high Cr+
X may have persistent hydronephrosis / reDuire continued a)5 pp5
Vesicoureteral re$u( <V54/
, $etrograde ;o( into ureters / can go )ac? to ?idney. more common in fe#ales* can lead
to recurrent 5)=
, 85 depends on de"ree of re$u(' "rom ab( !!( to sur"ery
X $oughly' grade I is (here ureters start to enlarge+ &onitor grade 0:/ -/: a)5 pp5*
grade I : de@nitely a)5 pp5** grade K:4 thin? a)out re"erring "or sugrical @5+
X )EPSEY is )est "or a)5 pp5. nitrofurantoin V/* amo5 not great
, VC5* sho(s ureters outlined on voiding 6put contrast in )lader* re;u5es )ac?(ards7
X Get annually* not more "reDuently 6;uoro time is )ad7
, $esolves at 12P !er year
5retro!elvic 6unction obstruction <5PN1 7' V0 cause hydronephrosis in chidlhood+ O"ten
visi)le in prenatal /S+ &ay need sur"ical correction i" o)struction causes s5* (orsens
"unction+
7ids with 5)=s8 <or? up any #ale infant with 5)= to evaluate anatomy* "unction 6get renal
/S* 9CG7
,nuresis' 042 o" 4 year olds. 042 per year resolve+ &ales H F* "h5 prominent* thin? social
issues too+
, $ule out ?idney lesions* spinal cord pro)lems 6loo? "or sacral dimple* hairy tu"t on )ac?7
, &ed alar# can help )ehaviorally 6Q1:^12 success (ith parental support7
79
, Consider des#o!ressin i#i!ra#ine "or sleepovers* summer camps 6doesnPt increase
resolution rates7
4enal )ubular Acidosis
All 4)As' have nor#al A* hy!erchlore#ic #etabolic acidosis
, Can prresent (ith F88
, DD5' GI losses* e5ogenous Cl: 6)oth (ould have negative %G E normal* acid urine as you
try to e5crete7
, 8reat (ith al@ani9in" a"ent 6)icar)* citrate7 to correct acidosis* restore gro(th+
)y!e 1' distal $8%. deFcient 'T secretion into @ltrate
, has !ositive urine anion "a!* (ith hy!onor#o@ale#ia and urine !' L 505 6really
losing a)ility to acidi"y urine (ell* and F- can get suc?ed out in the process7
)y!e 28 !ro(i#al $8%0 #ro5imal tu)ule doesnPt resor) )icar)onate+
A 5A* is 0 or ne"ative?? Normal= 6no impaired ammonia secretion7+ rine p! 3 4+4+
A &ay use thia9ide diuretics to increase pro5 tu)ule resorption o" )icar)
)y!e 3' also a distal $8%. hy!er@ale#ia "rom hypoaldo / pseudohypoaldo ::H i#!aired
a##onia secretion
, has !ositive urine anion "a!* (ith hy!er@ale#ia 6)y de@nition7 and urine !' K 505
6can still acidi"y the urine OF7+
, se furose#ide to correct hyper?alemia+
.anconi Syndro#e' #ro5imal tu)ular disease 6ty!e 2/. can )e secondary to "enetic d9
6cystinosis* galactosemia* <ilson disease7 or dru"s 6a#ino"lycosides+ e(!ired tetracycline*
cephalothin* cido"ovir* valproic acid* M:&#* aRathioprine* cisplatin* heavy metals* etc+7 : via acute
tubular necrosis+ alteration o" renal )lood ;o(* allergic reacitions+
, Anore(ia+ !olydi!sia+ !olyuria+ vo#itin"+ une(!lained fevers
, *lucosuria (ith nor#al seru# blood su"ars
, 'i"h urine !' (ith mild/moderate serum hy!erchlore#ic #etabolic acidosis+ 5A*
nor#al 61 or neg7
, &ild albu#inuria (ith normal serum !rotein+ albu#in )ut lo# serum !hos!horus+
calciu#
4heu#atolo"y
N=A 6Wuvenile idiopathic arthritis / "ormerly W$%7
, faint rash* 6oint !ain+ daily s!i@in" fevers (ith (a5ing/(aning body !ain+ 6oint
swellin"+ #ornin" sti>ness usually lasting L 20 #inutes
X CGC' thro#bocytosis+ leu@ocytosis+ ane#ia
X 4.-' more li?e adult disease 6412 progress to adult $%7. $F:' )etter prognosis
, Cate"ories8
X StillDs disease 6systemic:onset WI%7' arthritis (ith visceral involve#ent
80
6he!atos!leno#e"aly+ serositis+ ly#!hadeno!athy7
X Pauci <or oli"o/ articular N=A' WI% (ith 0:K Joints involved
\ ,arly:onset' fe#ales L #ales* a/( anterior uveitis* o"ten ANAT
\ %ate:onset 6HUy/o7' #ales L fe#ales+ a/( an@ylosin" s!ondylitis
X Polyarticular N=A' WI% (ith 4- Joints involved
, )reat#ent8 NS%IDs* steroids* methtre5ate. monitor "or anterior uveitis (ith slit:lamp
e5ams+
'SP' s#all vessel vasculitis common in youn" @ids+ ="A deposition in vessel (alls
, S5' Pal!able !ur!ura+ ne!hritis+ abd !ain *= bleedin" 6can lead to intussusception7+
arthritis+ &ay )e preceded )y $I 6o"ten G%G!S7
, 85' initially hydration+ !ain control* usually doesnPt reDuire more than supportive
treatment* resolves usually (ithin K mo although s5 may last "or 0/ (?s+ se syste#ic
corticosteroids i" severe GI/renal s5* may even need to step up to cyclo!hos!ha#ide i"
really )ad+
Nuvenile der#ato#yositisG age 4:01y* girls H )oys (ith !ro(i#al ## wea@ness 6canPt clim)
stairs* li"t hands over heads7* malaise* "atigue* (t loss* intermittent "evers* heliotro!e rash
6purple around eyes7* "ottron !a!ules 6scaly erythematous patches on e5tensor
&C#/interphalangeal Joints o" @ngers* el)o(s* ?nees7+
, ,levated seru# CP7?
, Disease happening in s#all blood vessels 6humorally mediated (ith immune comple5es*
CP activation* CDK- lymphocyte in@ltration ::H capillary* mm inJury7
, Give corticosteroids 6oral pred or pulse methylpred7
, DD5' #olymyositis less common in children : in polymyositis* see CDU lymphs attac?ing
muscles directly
7awasa@i Syndro#e' a generaliRed disease o" un?no(n origin* [ in"ectious
, D(8 C4AS' & &urn on your Fa(asa?i motorcycle'
X Con6unctivitis 6)ilateral* nonpurulent7 & Cervical ly#!hadeno!athy 6acute*
nonpurulent7
X 4ash 6polymorphous* primarily truncal7
X Aneurys# ris? - $ISF FO$ C141NA4Q AN,54QSE D,V,%1PE,N)???
X Strawberry ton"ue
X 'ands I feet 6edema / erythema changes acutely* then periungual desDuamation
(hen convalescing7
X &urn ' must have "ever "or at least 5 days 6or "e(er i" de"ervescence a"ter I9IG7
and no other more likel" etiolog",
, &ost common in Asians )ut does occur (orld(ide* most "reDuently in @ids K 5 years
, >a)s' elevated C4P+ ,S4* nor#ocytic ane#ia+ thro#bocytosis
, 85 early (ith =V=*+ as!irin 6reduces aneurysm development7
X 'old vaccines "or 00 months a"ter =V=* 6(onPt (or?=7
X Get $u vaccine (hen on !rolon"ed as!irin thera!y 6later* a"ter I9IG out o"
system7 to help avoid $eye syndrome (hen ta?ing aspirin
, Coronary aneurysm development more common i"' male* "ever H 01 days* age 3 0/ mo*
lo( serum al)umin / !)* early cardiac @ndings* throm)ocytopenia
81
S%, in mom can cause neonatal heart bloc@
Classic Fndin"s "or rheum conditions
Dry eyes / mouth SJogren Gottron papules Wuvenile D&
Oral / nasal ulcers S>E* <egener* Gechet
Nail"old capillary
changes
S>E* D&* scleroderma*
Fa(asa?i
Chest pain /
pleuritis
S>E* systemic WI%
#urpura !S#* small/medium
vessel vasculitis
%rthritis WI%* S>E &alar rash S>E* dermatomyositis
&uscle (ea?ness Wuvenile
dermatomyositis
$aynaud
phenomenon
S>E* scleroderma
S?in tightening Scleroderma
%abs in rheum conditions
8hrom)ocytosis Systemic $%
Sterile pyuria Fa(asa?i
%N% S>E* scleroderma* sJogren* W$% 6not systemic7
anti:dsDN%* anti:smith* antiphospholipid a) S>E
$heumatoid "actor $F:positive polyarticular WI%
>o( CI/CK S>E
Elevated C#F Juvenile dermatomyositis
%nti:$o* %nti:>a SJogren syndrome
Adolescence
)i#in" of !uberty
, &ales' testicular enlargement* then pu)ic hair* penis lengthening* then ma5 height
velocity
, Females' thelarche* pu)arche* ma5imal height velocity* then menarche
Delayed !uberty' no signs )y a"e 12 in "irls or no menacrhe I yrs a"ter start o" pu)erty* a"e
13 in boys
, 8hin? "onadal failure+ chromosomal a)normalities 6)urner7linefelter7*
hypopituitarism* chronic disease* malnutrition
, Constitutional delay is V0 caues 6^1:^427 : (ith delayed )one age* slo( gro(th* "h5+
Precocious !uberty' signs earlier than age V in "irls+ age O in boys 6may )e earlier "or %%
girls7
82
A Se5 hormones generally appropriate "or stage o" pu)erty* )ut not "or chronological age'
estradiol in F* 8 in &
W >!/FS! vary* so single sample not good enough+
W se *n4' sti#ulation test instead 6Gn$!* measure >!/FS! response7
\ Central E gonadotrophin dependent+
A ^12 girls idiopathic. structural CNS lesion in /4:Q42 )oys
Peri!heral E gonadotrophin indep+ 6e(!osure8 creams* OC# or
adrenal/ovarian tu#ors7
&one a"e L chron a"e on radiographs+
8reat (/ non-!usatile *n4' analo"s <leu!rolie/8 ?eep epiphyses "rom closing*
preserve @nal ht
S!eciFc syndro#es on dd( of !recocious !uberty
1emem$er, 0-9 inhi$its the 0ullerian ducts, testosterone induces the :ol;an ducts
, EcCune Albri"ht syndro#e'
X BCoast of Eaine- ca"e:au:lait spots* !recocious !uberty+ !olyostotic Fbrous
dys!lasia 6medullary tissue o" )one replaced (ith @)rous tissue : (ea?en )one*
cause de"ormity7
, CA'' Increased androgens )ut not gonadotropins
X .e#ales8 a#bi"uous "enitalia <3B+YY/ (ith #asculini9ation "rom androgens.
dd5 includes e5posure to maternal androgens* congenital vaginal a)sence+ Goth
:olXan I Euellerian ducts
X Eales8 virili9ation 6aggression* increased height/(t* pu)ic hair* muscles* oily s?in*
masculine voice7 * )ut (ith !re!ubertal testicular si9e0 $emem)er male in"ants
can have nor#al "enitalia )ut can )e salt-wasters <F887
*et 1V-hydro(y!ro"esterone i" suspicious
Can treat (ith hydrocortisone 6depresses adrenal production o" androgens7+ Give
hor#ones at pu)erty* can use estrogen:containing #O meds in "emales* depot
androgen inJections in males+
Con"enital andro"en insensitivity syndro#e'
3B+ YQ (ith testes in abdo#en )ut donPt respond to androgens E e(ternally
fe#ale
:olXan 6internal male7 structures* )ut no internal fe#ale structures 6have
&IF7
No e(ternal #asculini9ation E no !ubic hair+ etc0 6)ut normal )reast
development7+ 9agina oten ends in blind !ouch+
8ypically this is a really "eminine girl (ho goes through BnormalT pu)ertal
development )reast:(ise )ut never menstruates or develops pu)ic hair* "ound to
have a )lind vaginal pouch on e5am* genotype ends up )eing KM* Ca
Prader :illi - chr 15J+ !aternal deletion
hy!otonia* F88* hy!o"onadis# early in li"e
hy!er!ha"ia+ obesity* E4* )iRarre )ehavior )y M years. limited se5ual "unction
Pre#ature adrenarche' early activation o" androgens 6!ubica(illary hair+ body odor7
, usu+ "irls a"e B-S. also i" in boys K O
, %drogens normal "or pu)ertal stage )ut high "or chronolgic age+
83
Pre#ature thelarche' early breast develo!#ent (/o gro(th change* pu)ic / a5 hair
, usually "irls a"e 1-3* most common at 0/:/Km "rom transient estro"en )ursts "rom
prepu)ertal ovary+
-n $oth of the a$ove, normal growth rate & bone age are seen3
)anner sta"in"
8anne
r
Greast development
6F7
Genitals 6&7 #u)ic hair 6& & F7
I prepu)ertal prepu)ertal none
II breast bud*
areola (idens
testes* scrotum larger
scrotu# reddens* changes te5ture
sparse* longer* lighter
hair A )ase o" penis*
along la)ia
III elevation o" )reast
- areola
penis enlarges 6len"th7
testes* scrotum gro( more
dar@er* coarser* more
curled along pu)ic J5n
I9 areola !ro6ects
a)ove )reast
contour
penis enlarges 6thic@ness* glans
develops7
testes* scrotum gro(* dar@er
scrotum
adult-ty!e hair*
no s!read to thighs
9 mature stage.
smooth contour &
areola
adult adult:type hair*
s!read to thi"hs
Eittlesch#er9 : sudden onset o" $>Y or >>Y pain (ith ovulation. can have mucouid vaginal
discharge
, On dd5 o" appendicitis=
Dysfunctional uterine bleedin"'
, Cate"ori9ations
X Eenorrha"ia' e5cessive / prolonged )leeding (ith a regular menstrual cycle
X Eetrorrha"ia8 irregular )leeding )et(een menstrual cycles
X Eeno#etrorrha"ia' irregular uterine )leeding (ith e5cessive / prolonged ;o(
, 85'
X !) H 0/' =ron & follow-u!
X !) ^:0/' 8reat (ith a "e( cycles o" 1CP and iron
X 'b K O8 =V estro"en & may need hospitaliRation* trans"usion
,cto!ic !re"nancy' abdo#inal !ain+ va"inal bleedin"+ a#enorrhea classic* )ut only in
412 cases
Substance Abuse
#C# into5ication
#hencyclidine* angel dust* horse tranD* happy lea"+ piperidine li?e ?etamine. originally
anesthetic 6N&D% receptor )loc?er7* long:acting 6Mh short:term efects* "ull efect can
84
last several days* varia)le )ehavioral changes* unpredicti)le7* o"ten (ith &W
Dysarthria* nystagmus 6vertical7* )elligerent* hyperacusis* ata5ia* muscle rigidity* can
cause sR / coma* num)ness* !8N / tachy
8reatment' treat !8N* can acidi"y urine to increase e5cretion* hospitaliRe in a Duiet dar?
room+ Gastric lavage / charcoal can help+ treat seiRures as needed
%void restraints 6more muscle )rea?do(n7* gastric lavage 6emesis / aspiration7* typical
antipsychotics 6anticholinergic side efects ma?e it (orse7+ GenRos can delay e5cretion*
so avoid those too+
%lcohol dependence'
>a) tests' elevated liver transaminases 6particularly gamma:glutamyl trans"erase* GG87
and macrocytic anemia
%lcohol acute use'
A manage (ith respiratory support* gastric lavage / charcoal* thiamine / glucose as needed
%lcohol (ithdra(al'
8ypical stages' tremulousness / Jitteriness 6M:Uh7* psychosis / perceptual s5 6U:0/h7*
seiRures 60/:/Kh7* D8s 6/K:Q/h* up to 0 (?7
D8s' disorientation* tremors* elevated vital signs* ;uctuating consciousness post:
stoppage* can )e "atal=
DD5 vs thyroto5icosis* pheochromocytoma* inappropriate use o" )eta:agonist inhalers /
sympathomimetics+
se long:acting )enRos 6chlordiaRepo5ide* diaRepam7+ O5aRepam* loraRepam are good i"
liver "unction may )e compromised
Cocaine into5ication'
Gehavioral' euphoria* )luted "eelings* hypervigilance* hypersensitivity* an5iety* poor
Judgment* anore5ia
#hysical' dilated pupils* autonomic insta)ility* chills/s(eating* n/v* #&%/$* chest pain /
arrhythmias* con"usion / sR / stupor / coma* (t loss
Cocaine (ithdra(al' can last /:K days or longer* lcrashl 6dysphoria* irriti)ility* an5iety*
hypersomnia* depressive s5 incl SI7+
Into5 : (ithdra(al during li"etime o" addiction can mimic )ipolar disorder in the history=
%mphetamine into5ication' causes adrenergic hyperactivity 6tachy* pupils dilated* hypertensive*
perspiring* chills* nausea / vomiting* anore5ia / (t loss* mm (ea?ness* can have hallucinations*
resp depression chest pain* arrhythmias* con"usion* sR* dys?inesia* dystonia* coma can result7
&eth gives you )ad dental pro)lems 6meth mouth7 - paranoia* hallucination / tics /
aggression
8reat overdose (ith )enRos / haloperidol* cooling )lan?ets i" needed* treat !8N /
arrhythmias #$N
%mphetamine (ithdra(al' the lcrashl 6an5iety* tremors* lethargy* "atigue* nightmares*
headache* e5treme hunger7
Opioid into5ication' apathy* #&$* constricted pupils* dro(siness
, 85' cardiorespiratory support* gastric lavage / charcoal i" ingested* nalo5one i" ODing
Opioid (ithdra(al' nausea / vomiting* muscle aches* ;uids "rom all ori@ces* autonomic
hyperactivity* "ever* dilated pupils* depressed / an5ious mood* rarely li"e:threatening
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Generally* longer:acting su)stances give less (ithdra(al
I)upro"en can help muscle aches
Can use clonidine "or autonomic hyperactivity in acute:phase - methadone 6long:acting
opiate7
&ariJuana'
A %cute use' elation* rela5ation* impaired cognition. mood insta)ility* hallucinations+
Dro(siness* slo(ed reaction times* tachycardia* orthostatic hypotension* inJected
conJunctiva* dry mouth+
A 85' can use )enRos i" severely agitated
Ecstasy 6&D&%7 8
A %cute use' sense o" happiness* enhanced (ell )eing. agitation* con"usion* shoc? can
result+ hyperthermia* hypertension* tachycardia* tachypnea* dilated pupils* agitation*
hyponatremia possi)le+ Give activated charcoal* )enRos "or agitation / !8N* FEN
management* cooling )lan?et i" needed
!allucinogens 6e+g+ >SD7
A %cute use' euphoria* increased alertness. nausea* an5iety* paranoia* hallucinations* coma+
$estlessness* la)ile afect* hyperthermia* tachycardia* !8N* ;ushing* pupil dilation*
inJected conJunctiva* hyperre;e5ia
A 85' tal? do(n in calm environment. )enRos* cooling )lan?et i" needed* !8N treatment
Inhalants
A %cute use' euphoria* impaired Judgement. progresses to hallucinations* psychosis* sR*
coma+ %gitation / stupor* sluured speech* nystamus / tearing* rhinorrhea* increased
salivation too+
A 85' cardiorespiratory support as needed+
Eiscellaneous
Cold =n6uries
, .rostni!' small* @rm* cold* (hite patches o" s?in in e5posed areas+ 4ewar# areas to
treat+ No tissue necrosis involved+
, Chilblain8 a?a !ernio+ !erniosis0 S#all+ ulcerate+ !ur!le+ ede#atous
!laJuenodules on e5posed areas 6ears* @ngers7 that can last 1-2 wee@s & can )e
really !ruritic+ Develop 12-23h after e(!osure+ Dont pop )listers* dont (arm (ith
really hot (ater 6asensate in that area=7
, Cold !anniculitis' destruction o" fat cells a"ter e5posure to cold or cold o)Ject 6e+g+
Po!sicle !anniculitis+ on chee?7+ Can even loo? vasculitic+
, )rench foot' prolonged e5posure to cold/moisture + cold+ nu#b+ !ale+ ede#atous
foot0 Can have autonomic distur)ance "or years a"ter(ards+
, .rostbite ' tissue is fro9en I destroyed0 Stinging ::H aching ::H nu#b areas that are
hard I cold+ <hen re(armed* )ecomes red+ blotchy+ !ainful+ Care"ul "or "an"rene
afterwards0
X #revent "urther e5posure
X $emove (et clothes
86
X $e(arm directly )y s?in:s?in contact 6not a @re* not (ith "riction7+ Give tetanus pp5=
, 'y!other#ia ' cold (eather e5posure. core temp drops ::H tired+ uncoordinated+
lethar"ic+ a!athetic+ #entally confused+ irritable+ bradycardic
)eeth' see #andibular before #a(illary teeth and incisors Frst+ (or? (ay )ac? to #olars0
*irls )e"ore boys+
Child Abuse
A .orce feedin" :H transect the lin"ual frenulu#
A Pancreatitis in an in"ant is abuse until proven other(ise+
, 4etinal he#orrha"e' a)use is V0*/*I in dd5+ I12 have A /Kh o" )irth* )ut most resolve
in several days+
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'i"hly sus!icious "ractures
0+ Classic #eta!hyseal lesions
/+ Posterior rib f( esp in non:am)ulatory child
I+ Sca!ular or sternal "5 in a child less than 2
Eoderate concern "5' multiple "5* diferent ages* s?ull "5* verte)ral "5
Eost li@ely accidental "5' clavicular* long )one* linear s?ull "5
88