You are on page 1of 12

Pediatrics

Genu varum deformity


Normal in children 2 years
It will typically correct as infant learns to bear more weight on the lower extremities
o Will become neutral at 18-24 months and may turn into genu valgum (knock
knees) as the child grows will completely resolve at age 5
Physician should provide reassurance and f/u
o Measure the intercondylar distance and document expected spontaneous
resolution
Should obtain x-ray if suspecting of pathologic varus
Important cause to r/u is rickets (vitamin D deficiency)
o Patient will have other bone deformities, impaired growth, and delayed closure
of the fontanelles

Transient proteinuria
Is the MCC of positive protein on urine dipstick
Patient will have a normal urinary protein / creatinine ratio
Further diagnostic steps are NOT indicated at this time

Duodenal hematoma
Can be managed conservatively in a hemodynamically stable child
Will spontaneously resolve w/in 3-4 weeks
Treatment should include NG tube and TPN
o NG tube to decompress stomach and prevent aspiration of gastric contents
o TPN to let bowel rest and heal appropriately

Atopic dermatitis
Classically presents with dry, poorly-demarcated white scaling and erythema on the
head and EXTENSOR surfaces of the extremities
o Rash is usually pruritic and may cause sleeping problems
Commonly will see with patients who have fm h/o atopy
Main complication is the development of 2 infections (e.g. impetigo, HIV, warts,
and/or dermatophytes
Treatment is with topical emollients (e.g. petroleum jelly)

Hereditary spherocytosis
Patients will have splenomegaly, jaundice, anemia, and an elevated MCHC
o PBS will show spherocytes
There will be recurrent extravascular hemolysis of fragile RBCs w/in the spleen, leading
to increased bilirubin
o Major complication is cholecystitis due to formation of billirubinate gallstones
Treatment is with splenectomy (to prevent destruction and removal)
o Should provide vaccination against S. pneumonia, H. flu, and N. meningitidis due
to increased risk to these organisms
Ependymoma
Usually develop from the lining of the ventricular system
o MC location is in the fourth ventricle
If they grow large enough, can cause CSF flow obstruction and resultant hydrocephalus
Typically appear as homogenous enhancing masses on CT
o Often with cysts and calcifications

Pertussis
Epidemiology: caused by a gram-negative, obligate aerobic Bordatella pertussis
Has 3 stages
o Catarrhal (1-2 weeks): nonspecific s/s similar to URI
o Paroxysmal stage (2-6 weeks): intense coughing with high-pitched whooping
Can possibly be accompanied by cyanosis and posttussive vomiting
o Convalescent (weeks months): progressive reduction in symptoms
Diagnosis is with culture (gold standard) or PCR
Complications vary with system:
o Infections OM, PNA
o Pulmonary atelectasis, PTX
The severe bouts of coughing leads to increased Intrathoracic and intra-
alveolar pressure
o Neuro seizures, encephalopathy
Treatment is with any macrolide (if > 1 month)
o If macrolides not tolerated, then use TMP-SMX
o If infants < 1 month, azithromycin ONLY

Beckwith-Wiedemann syndrome
Congenital disorder with a predisposition to tumor development
o Increased risk of Wilms, neuroblastoma, adrenal tumors, and hepatoblastoma
Clinical features include: macrosomia, omphalocele, macroglossia, organomegaly, as
well as hypoglycemia
Labs will show a decreased BG, increased insulin and IGF-2
Treatment is resection of embryonal tumors and to maintain BG levels

DiGeorge syndrome
Defective development of the 3rd and 4th pharyngeal pouches leading to a hypoplastic
thymus and parathyroids
Caused by a 22q11 deletion
Clinical presentation is variable but commonly seen are CATCH-22
o Cardiac anomalies
Congenital heart disease (e.g. ToF, PTA, VSD, ASD)
o Anomalous face
Dysmorphic facial features prominent nasal bridge, hypoplasting wing
of nose, dysplastic ears, micrognathia
o Thymus aplasia/hypoplasia
Results in recurrent viral, fungal, PCP infections due to T-cell deficiency
o Cleft palate
o Hypocalcemia
Due to hypoparathyroidism, can lead to tetany
Treatment is with immune deficiency tx (e.g. abx, ppx, bone marrow transplant, IVIG)
o Possible thymus transplantation

Mullerian duct agenesis


The mullerian ducts fail to fuse
o Reults in an atretic uterus, cervix, and upper 1/3 vagina
Patients will be asx til puberty when they present with 1 amenorrhea
o Development of 2 sex characteristics occurs normally since gonads are f(x) and
patient has normal female karyotype
Treatment is primarily surgical, involving uterine transplantation and vaginoplasty

Galactosemia
Most common form is galactose-1-phosphate uridylyltransferase deficiency
o Leads to accumulation of galactose-1-phosphate and galactitol
Clinical features include: poor feeding, FTT, jaundice, hepatomegaly, cataracts,
cognitive impairment, and hypoglycemia
o Will also have increased susceptibility to E.coli sepsis
Diagnosis is with increased galactose in urine
Treatment is to avoid food containing lactose

SCID
Congenital disorder characterized by severe, recurrent infections (e.g. bacterial
diarrhea, oral candidiasis, or respiratory tract infections) as well as FTT
Will often exhibit absent thymic shadow (similar to DiGeorge syndrome)
o DiGeorge will also have characteristic facial anomalies
Patients may also have absent peripheral lymphoid tissue (e.g. lymph nodes, tonsils)
Children are typically screened using PCR amplication of T-cell receptor circles
Diagnosis is confirmed with low T-cell count and a mutated adenosine deaminase gene

IgA deficiency
Patient will have h/o recurrent pyogenic URIs as well as Giardiasis infections
o Suggestive of impaired mucosal immunity
These patients may develop anti-IgA antibodies
Are at increased risk for anaphylactic transfusion reactions
o Patient should be screened for anti-IgA antibodies
o Transfusion is preferred from another IgA-deficiency individual
o If not possible, should receive saline-washed RBC transfusions to prevent any
complications

Polycythemia
In neonate can occur if during pregnancy there is hypoxia (e.g. maternal diabetes)
Congenital heart defects (e.g. shunts)
o Blood flows through defect increased flow though pulmonary vasculature
increased pulmonary resistance
o Eisenmenger and shunt becomes R L, will have peripheral O2 sat decrease
Body responds by increased EPO production RBC increase = polycythemia

Juvenile nasopharyngeal angiofibroma


Rare, benign, and rapidly expanding tumors that occur exclusively in boys
Present with a mass arising from the roof of nasopharynx and patient will have
recurrent epistaxis
Diagnosis is with cranial CT scan (with contrast)
o Will show strong contrast enhancement due to increased vascularity
Complications include pressure necrosis on adjacent structures (e.g. orbits, intracranial
cavity)

Orchidopexy
Surgical correction of undescended testis is recommended 4-6 months of age
o Spontaneous descent is unlikely to occur after that
Early surgery will optimize normal growth and fertility potential
Ideally, orchidopexy should be performed before 1 year of age and is the surgical
procedure of choice

Neurofibromatosis 1
Presents with Caf au lait spots, Lisch nodules, and multiple neurofibromas
Patients have an increased risk for optic gliomas
o Should have annual ophthalmologic exam
o Should have brain and orbit MRI if they develop visual/ocular changes

Neurofibromatosis 2
Presents with b/l vestibular schwannomas, meningiomas, and cerebral/spinal tumors
Schwannomas may results in tinnitus, hearing loss, and vertigo

Ataxia telangiectasia
Triad of ataxia, telangiectasias, and recurrent infections
o Patients will have a progressive cerebellar ataxia and athetosis
o Telangiectasias will be present on face and conjunctivae
o Patients will have decreased immunocompetence recurrent infections
Are also at an increased risk of developing non-Hodgkin lymphoma

Sturge-Weber syndrome
Most characteristic is port-wine stain (i.e. nevus flemmeus) in the V1/V2 region of face
Also have vascular malformation of the choroid and CNS
o Leading to early-onset glaucoma, epilepsy, and intellectual disability

Tuberous sclerosis
Characteristic findings include:
o Skin manifestations adenoma sebaceum and ash-leaf spots
o Brain tumors (e.g. giant cell astrocytoma)
Can cause intellectual disability
o Cardiac rhabdomyoma (>50% patients sx CHF)
o Renal angiomyolipomas, can present with abdominal fullness
Patients will also have infantile spasms or seizures

Von Hippel-Lindau disease


Characterized by the development of numerous tumors including:
o Hemangioblastomas
o B/L RCC
o Pheochromocytoma

Venous hum
Common benign finding on auscultation in childhood
Most likely caused by turbulence in the IJV
Murmur characteristics
o Continuous murmur
o Tends to be louder during diastole and MC on right
o Gets softer with IJV compression (supine position, flexion of head)

Diabetic ketoacidosis
Typically seen in Type 1 diabetics
S/S include: polyuria, polydipsia, n/v, neuro sx (e.g. AMS, lethargy, coma)
Characteristics include: rapid onset, abdominal pain, fruity odor, and Kussmaul
respirations
In contrast to HHS, glucose will be <600 vs HHS where glucose >600, often 1000
Treatment involves IVF, insulin, and potassium chloride
o goal is to close the gap
o Continue treating until anion gap has resolved, even if you need to give glucose
to prevent hypoglycemia
Complications includes cerebral edema (typically seen in 1st 12 hours of tx initiation)
o Monitor patient for mental status changes and signs of increased ICP
Sphingolipidoses
Gauchers = -glucocerebrosidase deficiency
o Pathology shows characterist lipid-rich m with a crinkled paper cytoplasm
o Features include: HSM, neurodegeneration, bone crises, pulm manifestations
Krabbe = galactocerebrosidase deficiency
o Features include motor deficits as well as loss of vision
Tay-Sachs = -hexosaminidase A deficiency
o Features include: developmental delay, cherry red spot, hyperreflexia, seizures
o Pathology reveals lysosomes w/ onion skin appearance
They will NOT have HSM
Neimann-Pick = sphingomyelinase deficiency
o Features include: cherry red spot, hyporeflexia with the presence of HSM
o Pathology reveals foam cells in the bone marrow
Fabry = alpha-galactosidase A deficiency
o Features include: early symptoms of angiokeratomas, cataracts, corneal
clouding as well as late symptoms of CM, CVA, and neprophathy

Adrenoleukodystrophy
More common in younger males
Occurs from a ATP-binding cassette/ABC transporter mutation
Features include: cognitive impairment, dementia, adrenal insufficiency as well as
progressive vision, hearing, and motor deterioration
Lethal outcome

Parinauds syndrome
Etiology varies, can be from tumors, MS, encephalitis
o MC pinealoma (in children) = germinoma
Secretes -hcg
Can cause precocious puberty in boys
Features include a conjugate vertical gaze palsy, mydriasis, hydrocephalus, ataxia as
well as poorpupillary constriction
Tx is tx underlying condition
o If pinealoma focal radiation or chemotherapy

Laryngomalacia
Is a benign self-limiting condition that disappears by age 2 (in majority of cases)
Diagnosis is confirmed by flexible laryngoscopy
o Shows the collapse of supraglottic structures during inspiration as well as an
omega-shaped epiglottis
Patients will have an inspiratory strider that is worse while supine and better prone

Ehlers-Danlos syndrome
Due to defective type V collagen
Characterized by weakness of CT that predominally affects the joints and skin
Features include: joint hypermobility & subluxation, skin hyperextensibility, skeletal
abnormalities
o Fragile skin shows tends to bruise and break easily potentially severe
lacerations from minor trauma
Can have cardiovascular manifestations (will be more common in vascular Ehlers-
Danlos / type III collagen defect)
o Especially common is MVP
o Others include aneurysms and dissections, including berry/saccular aneurysms
(can lead to SAH)

Bronchopulmonary dysplasia
Can result form barotrauma and O2 toxicity via prolonged mechanical ventilation in
premature infants
S/S include: persistent tachypnea, labored breathing, diffuse granular densities with
basal atelectasis
o Patients will often need an FiO2 >30% to maintain SpO2 sat >90%
Treatment focuses on limiting O2 toxicity and preventing complications

Thyroglossal duct cyst


Presents as a nontender cystic midline swelling that moves upwards on protrusion of
tongue
Patients should first undergo U/S to confirm
o Ectopic thyroid tissue is commonly present, so ensure patient has normal
functional thyroid before excising
Definitive treatment is with excision

SCFE
MC presentation is an obese adolescent with hip pain
Patients will have a positive Drehmann sign
o Passive flexion causes external rotation and abduction
X-ray will show a widening of hip joint and an displaced femoral head
Treatment is with surgical pinning (for stable and unstable)

Renal Tubular Acidosis


I (distal)
o Presents with FTT, hyperchloremic NAGMA, urine pH >5.5, and hypokalemia
o Associated with a decreased H+/K+ ATPase antiporter which reabsorbs K+ and
secretes H+
Results in hypokalemia and a Hyperchloremic metabolic acidosis
o The urine cant be acidified so will have a pH >5.5
o Treatment consist of alkalization therapy with oral sodium bicarbonate
II (proximal)
o Inability of the PCT to reabsorb HCO3
o Presents w/ FTT, vomiting, hyperchloremic NAGMA, & hypokalemic
Differs from RTA 1 because patients will have urine <5.5
o Patients will still have ability to acidify urine and there will be increased H+
secretion in distal tubule in attempt to correct acidosis
o Treatment is with alkalinization therapy and thiazides (if alkali not tolerated)
IV
o Results from an aldosterone deficiency and/or resistance
o Presents with hyperchloremic metabolic acidosis and HYPERkalemia
o Will have a urine pH <5.5 and a positive urine anion gap (due to persistent
sodium excretion)
o Treatment is with furosemide, fludrocortisone, and K+ restriction

Transient tachypnea of the newborn


Benign condition that usually resolves w/o tx w/in 24-48 hours
Therapy should focus on supportive care which may include:
o Supplemental O2 (via hood or nasal canula), maintaining neutral thermal
environment, and providing adequate nutrition
Should r/o other causes of respiratory distress

Mastoiditis
Inflammation of the mastoid air cells
Arises from extension infection from middle ear cavity (AOM)
Diagnosis is with a CT of temporal bone
o X-ray findings can range from air cells appearing cloudy cavity in mastoid
Treatment
o Antibiotics will depend on past treatment and h/o of AOM:
Vancomycin if there has been no h/o recurrent AOM or no recent abx
Vanc + ceftaz/cefepime/pip-tazo for patients who had recent abx or
past AOM w/in 6 months
o Tympanostomy + tube insertion
For early stages of mastoiditis
o Mastoidectomy indicated in severe cases that do not improve with abx +
tympanostomy
Ob/Gyn
Aromatase deficiency
These individuals are unable to convert androgens estrogens
Karyotypically female patients (46 XX) are born with ambiguous external genitalia and
present with female pseudohermaphroditism
o They will have normal internal genitalia
At the time of puberty, they will fail to develop 2 characteristics and will typically
present with 1 amenorrhea
o Amenorrhea due to development of ovarian cysts impairing ovulation as well as
virilization due to increased testosterone

Physiologic lab changes in pregnancy


Presents as a chronic compensated respiratory alkalosis
Acid-Base
o Progesterone indirectly increases minute ventilation increasing the sensitivity of
the respiratory center increased pO2, lower pCO2
Blood
o Hgb concentration will decrease ~2g/dL from pre-pregnancy due to a 40-50%
increase in plasma volume
dilutional anemia
Renal
o Increased plasma volume and CO will increase GFR by ~50%
o Results in decreased Cr, BUN, and uric acid

Trastuzumab
Used for HER2 + tumors
Carries side effect of cardiotoxicity (e.g. dilated CM with systolic HF)
o Before initiating, should do echocardiogram to evaluate cardiac function
o Cardiotoxic effects may be limited with dexrazoxane (iron chelating agent)

Gastrochisis
Condition in intestines herniate freely through an abdominal defect and are NOT
contained in hernia sac
Associated with an elevated 2nd TM MSAFP
Is associated with cryptorchidism and bowel abnormalities

Omphalocele
Condition in which the intestines herniate at the navel and are contained in a sac
Will often have multisystem organ involvement and is associated with: GI
malformations, cardiac defects, trisomies, Beckwith-Wiedmann syndrome
Associated with an elevated 2nd TM MSAFP
Treatment is securing the bowel and performing surgical closure of wall defect

Interstitial cystitis
Is a chronic, noninfectious cause of cystitis with an unknown etiology
Patients present w/ suprapubic pain and increased urgency/frequency for >6 weeks
Considered a diagnosis of exclusions and ALL other causes of cystitis must be r/o first
Treatment is with:
o 1st line behavior modification
o 2nd line amitriptyline (analgesic and antidepressant)
o 3rd line invasive bladder procedures

Retained dead fetus


Spontaneous labor will typically begin w/in 2 weeks but it can be induced with oxytocin
or misoprostol
*If >2 weeks, increased risk of systemic absorption of thromboplastin (produced by
placenta)
o Results in coagulation cascade activation DIC*
If septic, manage with broad-spectrum abx and surgical evacuation of uterine cavity

Magnesium sulfate
Give to pre-eclamptic mother with severe featuers to prevent progression to eclampsia
Any patient receiving should be closely monitored as it can have severe side effects
o Typically hypo/areflexia
In case of toxicity, should decrease/stop dose and give calcium gluconate

Functional hypothalamic amenorrhea


Can be caused by a variety of factors including: excessive exercise, reduced calories, or
stress
In response the body regulates reproductive potential down by decreasing frequency
of GnRH release from the hypothalamus
o decreased gonadotropin (FSH & LH) secretion
o End results in subsequent anovulation 2 amenorrhea

Vaginal atresia
Caused from Mllerian agenesis
o Patient will have normally function gonads normal 2 characteristics
o Will be atresia of upper 2/3 of vagina
o Associated with absent or malformed uterus and cervix
Clinical features are asx before puberty, but following can present with 1 amenorrhea,
infertility, and dyspareunia
Diagnosis is confirmed with ultrasound, and the patient will have normal labs
Treatment is with vaginoplasty
Imperforate hymen
Refers to a hymen without an opening
Features include: primary amenorrhea, palpable lower mass, and tense bulging bluish
membrane in vulva
Diagnosis is clinical, but imaging can be conducted to r/o transverse vaginal septum
Treatment is with excision/surgery
o Patients menses will typically normalize and menstrual pain decreases after
procedure

Precocious puberty
Refers to the appearance of 2 characteristics before age 8 in girls, and 9 in boys
Central
o Patient will have elevated GnRH levels
o Pathophyisology is premature activation of hypothalamo-hypophyseal axis
o Labs will show an increased LH and FSH
o Diagnosis is with a GnRH stimulation test (levels will increase after IV GnRH)
Should also get an CT or MRI w/ contrast to r/o organic causes
o Treatment is with GnRH agonist (e.g. leuprolide)
Manage underlying cause
Peripheral
o Patients will NOT have elevated GnRH
o Etiology is typically from androgen, estrogen, or -hcg production
This can include variety of tumors as well as CAH and McCune-Albright
syndrome
o Diagnosis is with an U/S pelvis, testicles, and abdomen
o Labs will show elevated est/test (depending on tumor) and a decreased FSH/LH
Other tests can include TSH, FT3, -hcg, CT/MRI
o Therapy is to treat underlying causes
Only exception is ovarian cysts because most spontaneously resolve

Lichen planus
Chronic inflammatory disease with characterist white, atrophic plaques
Clinical presentation is severe pruritis, pain/soreness
o Gender specific dyspareunia in women and phimosis in men
Diagnosis is confirmed with punch biopsy (and to r/o squamous cell carcinoma)
Treatment is with topical steroids (e.g. clobetasol, and sometimes betamethasone)
o 2nd line = calcineurin inhibitors (e.g tacrolimus, cyclosporine)

Postterm pregnancy
Will increase risk of meconium aspiration
o Due to combination of fetal GI tract maturation, increased fetal stress, and
decreased meconium clearance from insufficiency of aging placenta
Induction of labor between 40-42 weeks can reduce risk of these complications
Vaginismus
Also known as genito-pelvic / penetration disorder
Patients will have a sharp pain on penetration (e.g intercourse, tampon insertion)
Initial treatment recommended is pelvic floor physical therapy
o If refractory, can use local botox injections

Chancroid
Caused by H. ducreyi
Presents with multiple painFUL purulent lesions that have a grey necrotic base
o Often accompanied by painful inguinal LAD
o In men, often is single lesion
Treatment is with single dose oral azithromycin or IM ceftriaxone

Granuloma inguinale
Caused by K. granulomatis
Presents with painless nodules that eventually ulcerate and form beefy-red lesions
o Lesions will bleed easily and lymph nodes are typically spared
Biopsy will show Donovan bodies (inclusion bodies within macrophages)
Treatment is with azithromycin

Lymphogranuloma venereum
Caused by L1-L3 C. trachomatis
Presents as a transient painless papule that heals rapidly
o 2-6 weeks later will have painful suppurative LAD with systemic symptoms
Treatment is with doxycycline

You might also like