Misc peds Flashcards
At about what age does the infant lose the mother’s protective antibodies?
~ 6 months
characteristics of CVID?
can have similar clinical picture to Bruton’s agammaglobulinemia, but has NORMAL B cell levels and presents in 20s or 30s
what would the serum/urine sodium osmolality be in a kid with diarrhea and vomiting?
low serum sodium
low serum osmolality
low urine Na
high urine Osm
MC cyanotic lesion presenting in immediate NB period?
transposition of the great arteries
What would you hear on PE with TGA?
normal PMI or parasternal heave
- S2 loud and single
- no murmurs or soft systolic ejection murmur at mid LSB
synonym for atopic dermatitis?
eczema
autoimmune polyglandular disease TYPE 1
- hypoparathyroidism
- Addison disease
- mucocutaneous candidiasis
- small number w/ autoimmune thyroiditis
autoimmune polyglandular disease TYPE 2
(Schmidt syndrome)
- Addison disease
- insulin-dependent DM
- +/- thyroiditis
What are some HLA-DR3 related disorders?
Graves, addison, DM, MG, celiac
What HLA markers is graves assoc with?
HLA-B8 and DR3
What exactly is choanal atresia?
obliteration or blockage of posterior nasal aperture
best initial test for choanal atresia?
insert a catheter in nose
confirmatory test for choanal atresia?
CT scan w/ contrast of head
CHARGE
- Coloboma
- Heart defects
- Atresia of the choanae
- retardation (growth +/_ mental)
- GU abn
- ear anomalies
what is adrenoleukodystrophy?
X-linked; mutation prevents transport of VLCFA into peroxisomes, preventing their B-ox/breakdown
how does adrenoleukodystrophy present?
- accum of abnormal VLCFA in organs (neurons and adrenal cortex)
- neuro: weak/spastic -> dementia, blindness, quadriparesis
- primary adrenal insufficiency: hypo Na, postural HoTN, hyper K, lack of response to cosyntropin test
full term infant w/ resp distress and decreased breath sounds on left. suspected dx?
congenital diaphragmatic hernia
- scaphoid abdomen
- intrathoracic air-filled intestine
- PMI displaced right
1st step to tx congenital diaphragmatic hernia?
NG suction for bowel decompression, and immediate intubation
what is the range for impaired glucose tolerance?
> 100 and <126 FBG
when should inhaled steroids appropriate to tx asthma?
DOC for persistent asthma:
- use B2 agonist 3x/week
- symptomatic 3x/week
- 2 exacerbations in 6 months requiring oral steroids
CXR features with TTN?
- perihilar streaking (engorged lymphatic system w/ retained lung fluid)
- fluid in fissures
- > improves rapidly with supplemental O2, resolves in 2-3 days
findings with air leak syndrome?
(pneumomediastinum, PTX, pneumopericardium)
- sudden onset resp distress
- poss HoTN (dec CO), muffled heart tones, abd distention, asymm chest, deviated heart sounds
- CXR: free air in hemithorax, visible edge of the collapsed lung
findings with meconium amniotic fluid aspiration?
- resp distress w/in first hours
CXR: patchy infiltrates, coarsely streaked bilateral lung fields, increased AP diameter, flattened diaphragm - don’t recover as rapidly as TTN
what complication of GAS is not preventable with early abx?
glomerulonephritis
how should subsequent pregnancies be managed if first born has CAH salt losing type?
- give dexamethasone to mom beginning at 6 weeks gestation (crosses placenta, suppresses fetal adrenal steroid secretion, prevents masculinization)
- CVS at 10-12 weeks to determine genotype ; continue tx if female
- continue tx until genetic analysis confirms absence of abnormal genes
risk factors for developmental dysplasia of the hip (difficulty w/ abduction on barlow test)?
- MC in females than males
- breech delivery
- first born child
- family history
- MC in whites/navajo than blacks
osteochondritis?
osgood schlatter
- stress rxn of patellar tendon insertion into tibial tubercle
MCC of diffuse bronchiectasis in children?
- CF
- often accompanied by chronic diarrhea and FTT
pathophys of bronchiectasis?
recurrent infxn/inflamm -> chronic obs and hypertrophy of bronchi -> abn dilatation of bronchi and bronchioles
growth deficiency, microcephaly, short palp fissures, maxillary hypoplasia, micrognathia, thin upper lip
fetal alcohol syndrome
lithium exposure in pregnancy?
increased risk for CHD (Ebstein anomaly) but not others
CNS defects (hydroceph, microceph), facial asymm, microtia/anotia, conotruncal cardiac abnormalities, mental def.
isotretinoin exposure
Gaucher disease
AR LSD def of glucocerebrosidase enzyme - subset are asx with painless HSM - dec plt, anemia - severe: bone abn: pain crisis, avasc necrosis, osteoporosis, fx, abn modeling w/ widiening of distal femurs tx: enzyme replacement tx
alpha-mannosidosis sx?
MR and others
Hunter syndrome
x-linked MPS
mild or severe
coarse facial features, bone abn
Neimann-Pick type A
HSM at birth, FTT, neuo deterioration -> death in first few years of life
Sanfillippo disease, type B
dev delay, coarse features, CNS deterioration
risk of mother of kid with DS of having another kid with DS?
1% in addition to mom’s age related risk
What is the proper course of action after discovering hypospadias in a NB?
delay circumcision (to about 6 months) because that is when reocnstruction will be performed
Bartter syndrome
rare AR; hypokalemia, hypochloremia, high renin and aldosterone
Liddle syndrome
pseudohyperaldosteronism
- disorder of renal xport of sodium and potassium
- infancy/childhood: HTN, polyuria, polydipsia, hypokalemic metabolic acidosis
- low serum aldosteorn
Lesch-Nyhan syndrome
- Xlinked, def of HPRT which catalyzes salvage pathway of purines
- inc production of uric acid
- hyperuricemia, uric acid stone, renal impairment, gouty arthritis
- self-mutilation, choreoathetosis, MR
Hunter syndrome
MPS II, Xlinkedrecessive, accum of heparan and dermatan sulfate
- short neck
- broad chest
- protub abd
- HSM
- umb hernia
- thoracolumbar kyphosis
- dec. joint mobility
- claw fingers
- stiff gait
- short stature after age 3
What pathogens most commonly affect asplenic pts?
- S. pneu
- H. flu type B
- N. meningitidis
tx for severe lead poisoning with encephalopathy?
EDTA + BAL (dimercaprol)
at what lead level do you start tx with a single drug?
45; give DMSA (succimer) oral
what other conditions can lead to aplastic anemia with parvovirus infxn?
SCD
hereditary spherocytosis,
AIHA
(virus halts erythropoeisis in everyone, but pts with rapid RBC turnover will be symptomatic)
what does renal U/S do compared to VCUG?
U/S looks at urinary tract anatomy/hydropnephrosis;
VCUG is used to dx and evaluate severity of VUR
labs indicative of septic arthritis?
arthrocentesis: purulent with neutrophil count >50,000 and low glucose conc.
when should an infants wt be double the birth wt?
6 months
when should an infants wt be quadruple the birth wt?
24 months
when should an infants length be double the birth length?
4 years
when should an infants wt be triple the birth wt?
12 months
what is orthostatic proteinuria?
total urinary protein excretion rate is higher when child is upright; asx
MC IV regimen for CF w/ infxn?
- tobramycin
AND either antipseudomonal PCN (ticarcillin, piperacillin) OR 3rd gen cephalosporin (ceftazidime or cefepime) OR carbapenem (imipenme/cilastatin or meropenem)
What is apnea of prematurity and how is it treated?
cessation of air >20 s; assoc w/ dec. HR and hypoxemia
- happens in half of babies born at 30-31 wks GA, all if <28 wks
- tx: methylxanthines (theophylline and caffeine) -> stim resp neurons
When is epi indicated for neonatal resuscitation?
HR <60 bpm despite 100% O2 effective ventilation and chest compression for at least 30 s
why is there physiologic steatorrhea in neonates?
- excessive amount of bile acids lost in stools -> poor abs of fat
- worse in preterm infants
- tx: substitute medium chain TG for LCTG, because MCTG don’t require bile acids for absorption
tx for wiskott aldrich?
(triad: dec plt, eczema, rec. infxn)
- splenectomy, continuous abx, IVIG, bone marrow transplant
(inc. risk malignancy - lymphoma, ALL)
mass of SCM muscle discovered between 1-8 weeks. dx and management?
congenital torticollis aka SCM tumor of infancy
- usually regress over 4-8 mo
- conservative tx w/ PT
4 year old developmental milestones
4 year olds do things in 4s:
- 4 sided shape (square)
- count to 4
- ID 4 colors
- say 4-5 word sentence
- picture of a person w/ at least 4 parts
at what age can they draw a triangle?
5
when can 5 digits be repeated?
age 7
What is the most likely complication of NF1?
bony dysplasia - long bone dysplasia, scoliosis, bowing of tibia
Above what % is FENa consistent w/ acute RF?
> 2%
first teeth to erupt in infant?
mandibular central incisors
