Pediatrics Flashcards
kid with macrocytic anemia, low retic count and congenital anomalies, suspect what dX?
Diamond-Blackfan syndrome aka congenital hypoplastic anemia
see elevated fetal hemoglobin levels
tx: corticosteroids or transfusion therapy
adolescent with nasal obstruction, visible nasal mass and frequent nosebleeds
juvenile angiofibroma
4 yo with hypoglycemia, hyperuricemia, hyperlipidemia and lactic acidosis, doll-like face
Von Gierke’s
Type 1 glycogen storage disorder caused by deficient glucose-6-phosphatase
patients with precocious puberty and high LH, next step?
brain MRI
what immune deficiency predisposes to Giardia infections
IgA deficiency
kid is peeing protein, best first test?
repeat test in 2 weeks, then quantify with 24 hour urine
Tx for erythema toxicum?
reassurance
> 25% lymphoblasts is diagnostic for what illness
ALL
chorioretinitis, hydrocephalus and intracranial calcs
toxo
mgmt of kid with epiglottitis
endotrach intubation in the OR
mgmt of kid with bilious vomiting and decreased stool output
gastrograffin enema
newborn with cyanosis that is aggravated by feeding and resolves with crying
choanal atresia
MC complication of sickle cell trait
painless hematuria
mgmt newborn with scaphoid abdomen and respiratory distress
congenital diaphragmatic hernia
endotrach intubation
mgmt aplastic crisis in sickle cell
transfusion
when consider formula supplementation in a neonate
if loses >7% of birth weight
15yo with progressive muscle weakness, atrophy of thenar and hypothenar eminences, testicular atrophy? Dx? inheritance?
Myotonic dystrophy
AD
when intervene in a kid with cryptorchidism?
if testes haven’t dropped within 6 months of birth
newborn with irritability, high pitched cry, diaphoresis, sneezing: what drug did mom abuse?
heroin
kid with white eye reflex, next best step?
refer to optho
retinoblastoma until proven otherwise
pt with croup with respiratory failure, next step?
Rac Epi before intubate, decreases need for intubation
child with acute rheumatic fever with valvular dz
all pts wtih rheumatic fever should be treated with PCN. duration depends, but at least til 21 or in some cases 40 yo
girl with precocious puberty, pigmentation adn polostotic fibrous dysplasia, dx?
McCune Albright
Hep B is associated with what kind of nephropathy?
membranous!
see low C3
mgmt of pubertal gynecomastia
no workup or tx usually self resolves within 2 years
when begin visual acuity testing?
3 years old
in premature babies, what increases the risk of iron deficiency anemia as infants?
introduction of cows milk before age 12 months
soft tissue swelling in feet and hands of baby with sickle cell
dactylitis
Cri du chat gene is on what chromosome?
5p
tympanic membrane with peripheral granulation and some skin debris–dx?
Choelsteatoma
2/2 chronic middle ear dz
retraction pocket in the tympanic membrane
kid presents with toxicity with anticholinergic sx
what med? what tx?
TCAs
Tx: sodium bicarb if wide QRS >100
RF for intussuception in older kids
Meckel’s diverticulum
kid exposed to chicken pox, nml immunity, no h/o vaccination, next step
vaccinate!
only give IVIG if immunocompromised
triple bubble sign and gasless colon: dx? Rf?
jejunal atresia
RF: mom who used cocaine or other vasoconstrictive drugs
what congenital cardiac defect is common in Edward’s syndrome?
VSD
mgmt ITP
observation regardless of the platelet count
if severe bleeding, give IVIG or steorids
what illness get a rash after giving ampicillin or amox?
Mono
tx gonococcal infxn in newborn
IM CTX
tx chlamydia infection in newborn
oral erythromycin
what skin lesion in newborns should be removed
nevus sebaceous because of concern for cancer
high direct bili in a 7 day old newborn dx?
biliary atresia
dark urine, pale stool, needs surgery
baby with respiratory distress with excess drooling
TEF
dx: place feeding tube and do xray
umbilical hernia associated with what?
hypothyroidism
big tongue
2 week old infant with bilious vomiting, pregnancy complicated by polyhydramnios
intestinal atresia or annular pancreas
assoc with downs syndrome
3 day old newborn hasn’t passed meconium? dx?
meconium ileus: dx/tx is gastrograffin enema
Hirschsprung’s: DRE –? explosion of poop, bx shows no ganglia
what don’t you do to a newborn with hypospadias
circumsize
lead poisoning tx
Mild 5-44: no tx, repeat in 1 month
Mod 45-69: give dimercaptosuccinic acid
>69: Dimercaprol + EDTA
neonatal fever tx
amp and gent until 48hr cultures negative, add cefotax if suspect meningitis
Café au lait spots, seizures, large head, AD
NF
Mandibular hypoplasia, glossoptosis, cleft soft palate with FAS or Edwards
Pierre Robin sequence
Broad, square face, short status, self injurious behavior. Deletion on Chr17
Smith Magenis
Seizures, strabismus, sociable with episodic laughter. Deletion on maternal Chr15
Angelman
Elfin appearance, friendly, increased empathy and verbal reasoning ability. Deletion on Chr 17
Williams
2 yo with multiple ear infections, diarrheal episodes and pneumonias. No tonsils on exam
o X-linked agammaglobulinemia
o Infections start a 6-9 months when maternal antibodies are no longer present
o Labs: absence of B cells on flow cytometry, low levels of all Igs
17yo F with ↓ levels of IgG, IgM, IgE and IgA but normal numbers of B cells
o CVID (acquired) o Complication: increased lymph tissue→ increased risk for lymphoma
MC B cell defect: recurrent UTIs, diarrhea
o Selective IgA deficiency
o Complication: anaphylaxis reaction if given blood containing IgA
3 week old male with seizures, truncus arteriosus and micrognathia
o DiGeorge syndrome
o Genetic defect: microdeletion on Chr22
o Candida, viruses and PCP pneumonia infections as a kid
Infant with severe infections, no thymus or tonsils, severe lymphopenia
SCID
Bacterial, viral and opportunistic bugs
MC is XLR. AR is Adenosine Deaminase deficiency
Tx: peds EMERGENCY, need BMT by age 1 or death
3yo M child with recurrent swollen, infected lymph nodes in groin and staph aureus skin abscesses
treatment?
Chronic Granulomatous disease XLR
PMNs can ingest but not kill catalase + bugs (NADPH oxidase deficiency)
Dx: Nitrotetrazolium blue (yellow means they have the disease) and new test is flow cytometry with DHR-123
Tx: daily bactrim and gamma interferon 3x/wk, BMT is curative but $$$
o 18mo M baby with severe eczema, petechiae and recurrent ear infections
o Wiskott-Aldrich Syndrome
o Often present with prolonged bleeding after circumcision
o ↓IgM, ↑IgA ↑IgE, slightly low IgG
decreased platelets 2/2 decreased platelet production
infections with encapsulated organisms
o Delayed separation of umbilical cord, recurrent bacterial infections, necrotic skin lesions, gingivitis
o Lekocyte adhesion defect
o Neutrophilia without polymorphs in the infected tissue or pus
o ↓CD18
: harsh systolic ejection murmur at L upper sternal border, single S2 – Dx?
tetralogy
surgery before 6 months is tx
14yo boy, starts out in 50% for height, in past 2 years is now between 5-10%
- Pathologic Short Stature
* Consider: craniopharyngioma (vision problems), hypothyroidism (TSH), Hypopit (check IGF-1), Turners (check karyotype)
MMR contraindication
neomycin or streptomycin allergy
when are live vaccines given
12 months
MMR
VZV
HepA
are febrile seizures a contraindication to tDAP?
no!
Newborn cyanotic, O2 doesn’t improve
o Transposition of great arteries
• MC: infants of diabetic mom
• No assoc murmur
2yo who gets cyanotic and hyperpnea while playing, squats down
o Tetraology of Fallot
• VSD and RA hypertrophy, overriding aorta, pulm stenosis
• Murmur: harshe SEM + single S2
• Tx: O2 and knee-chest position, surgical correction
Bipolar woman gives birth to a child with holosystolic murmur worse on inspiration?
Assoc arrhythmia?
o Ebstein anomaly
o Tricuspid insufficiency 2/2 TV displacement into RV
o Associated arrhythmia: WPW
Heart defect associated with DiGeorge syndrome. CXR shows ↑ pulm blood flow and bi-ventricular hypertrophy
o Truncus arteriosis
o Eisenmenger develops early
o Do surgery in 1st few weeks of life
Tx PDA
if not close by 1 week, tx with indomethacin or surgically close
Tx HOCM
BBs
CCBs
does PFO have an associated murmur?
NO
kid with failure to thrive in early childhood, what dx should you suspect
CF
o Precocious puberty, café au lait spots and multiple bone defects
o
McCune Albright
5% of precocious puberty
o assoc with hyperthyroidism, prolactin or GH secreting pituitary adenomas
tx Ca oxalate kidney stones
HCTZ
FH of kidney stones, what are they made up of
cystieine, can’t resorb certain AA