Neoprep Scramble Flashcards
Named the virus that is like enterovirus except also causes seizures
Parechovirus (echovirus)
Picornavirus family
Can calso cause NEC
Viral shed 50 days
Name the disease:
Edema, hyperechoic kidneys, proteinuria
Wide split sutures
Wide set eyes, low set ears, umbilical hernia
Elevated alpha fetoprotein
Congenital nephrotic syndrome
NPHS1 nephrin, transmembrane protein
NPHS2 podocin, integral membrane protein
WT1 TF
PLCE1 phospholipase C epsilon protein
ETT measurement (Tochen’s rule)
6cm + weight
7-8-9
Except VLBW:
Duke’s: <1kg 5.5cm or <500g 5cm x weight
Or
Gestational age nomogram
Congenital methemoglobinemia
AR: cytochrome B5 reductase deficiency
- developmental delay, seizures, early death
AD: hemoglobin M
Optimal nutrient and protein retention
Carb to lipid ratio 60:40
Too much carb - lactic acidosis, fatty liver, cholestasis
Hypotonia
Cerebellar hypoplasia or cerebral atrophy
Frontal bossing, high anterior hairline, low set dysplastic ears
Hypertelorism, exophthalmos, up slanting palpebral fissures, microphthalmia
Broad flat nasal bridge, anteverted nares, long philtrum
High arched palate
Short neck
Short limbs, scoliosis, atlanto-occipital fusion, small hands and feet, polydactyly
CHD: asd/vsd, coarc, aortic stenosis, DH
GI: hernia, anal atresia/stenosis
GU abnl
Pallister Killian syndrome
Mosaic tetrasomy short arm chromosome 12p, non-disjunction
Needs skin or bone chromosomes studies for DX
Hep C screening and treatment
Increase risk: >6h ROM, vaginal lacerations, HIV co-infection, detectable viral load
80% risk of chronic infection to children
Maternal antibodies present up to 18mo
RNA nucleic Acid application (NAAT) as early as 1-2 m (PCR), if positive retest at 18 mo for clearance
Antiviral rx starts at 3yo x12 weeks (assess viral load at 3yo)
LQTC
AD: Romano Wars, rx beta blocker
AR: Jervell, Lange-Nielson
Hearing loss, Beta less effective
First line treatment for hepatoblastoma
Basically, chemo unless small
Presents <2yo
Elevated AFP (>158)
PRETEXT:
1. 3 contiguous free sections
4. No tumor free sections
1-2: primary resection +/- chemo
Intermediate (1/2 w/ vessels, 3: chemo then resection then chemo
4. Same as intermediate but worse outcomes
Seizures, hypotonia, deafness, DD,
very long chain fatty acids, polymicrogyria, subependymal cysts
Poor growth
Flat facies, large AF, high forehead and shallow supraorbital ridges
Congenital cataracts
Hepatomegaly
Patellae stippling
Renal cysts
Zellweger spectrum disorder
PEX gene mutations
Peroxisomal d/o
Brain lesion of nonketotic hyperglycinemia
Agenesis of corpus callosum
Sx: prenatal hiccups and seizures, postnatal hypotonia, poor feeding, seizures
Rx: csf and plasma glycine, increased csf:plasma ratio
Brain finding assoc with Krabbe disease or globoid cell leukodystrophy
Enlargement of optic nerve and chiasm
Brain finding of urea cycle disorder
Cytotoxic edema 2/2 increased glutamine (osmotically active)
Hypophosphatasia skeletal dysplasia etiology (severe rickets)
Deficiency of functional tissue non specific alkaline phosphatase
Alk phos < 50, elevated vit B6 (causes seizures)
AR (AD more mild, presents later)
Rx: ERT with asfotase Alfa
Hypotonia, feeding difficulty, coarse facial features, seizures, exaggerated startle, opithotonus
Brain: cerebral atrophy, enlarged ventricles, diffuse b/l periventricular abnl/?multi custom encephalomalacia
Molybdenum cofactor deficiency
Test urine sulfites (high), low serum uric acid (If high, sulfite oxidase deficiency)
Rx: cyclic pyranopterin monophosphate (early)
