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)
Pyridoxine dependent seizures
Defect: ALDH7A1 gene, antiquitin protein
D/o of lysine metabolism (important for GABA synthesis)
Rx can cause apnea, hypotonia, hypotension
Cardiac tamponade: BP changes
Decreased PP
SBP decrease with inspiration (pulsus parodoxus) - RV cannot expand leading to bowing into LV, decreasing EDV/SV.
However: increases with inspiration if PPV
Osteogenesis imperfecta
Type I collagen
COL1A1 or 1A2
Rx bisphospohnates
Alveolar capillary dysplasia
(ILD diffuse developmental d/o)
Arrest of lung maturation in late canicular to saccular phase
GU: hydronephrosis
GI: atresia, malrotation
Cardiac: HLHS, aortic arch an l, PDA
Mutations in FOXF1
Maternal zidovudine toxicity to neonate
Elevated serum lactate (metabolic acidosis, mitochondrial dysfunction), liver toxicity, macrocytic anemia (self limited to 3mo), relative neutropenia and lymphopenia (up to 18-24mo)
Turribrachycephaly (tall head with flattened occiput), closed b/l coronal sutures, hypertelorism, proptosis, small beak shaped nose, hearing and dental abnl
Complex syndactyly
Apert Syndrome
AD, FGFR2 mutation
Advanced paternal age
Craniosynostosis
Hydrocephalus
Cleft palate, dental abnl, hearing loss
Normal intellect
Crouzon syndrome
FGFR2 mutation
FGFR3 if +acanthosis nigricans, choanal stenosis/atresia, jaw growths (cementomas)
Craniosynostosis
Acanthosis nigricans
Cutis gyrata (furrow, wrinkle @ face, ears, palms/soles)
Umbilical stump overgrowth
GU abnl
Beare-Stevenson syndrome
FGFR mut
Craniosynostosis
Foot abnormalities (hands normal)
Jackson Weiss
FGFR2
Pfeiffer syndrome subtypes
1 Turribrachycephaly, normal intelligence, FGFR1 or 2
2 cloverleaf skull, hydrocephalus, elbow ankylosis, organ malformation, DD; FGFR2
3 type 2 but not cloverleaf.
+Upper limb abnl
Treatment for cystathionine B synthase/MTHFR deficiency
Betaine
Supplement folate, B6, B12
AR
Harlequin icthyosis
Systemic retinoid RX
Multidisciplinary
ABCA12 mutation -lipid transport
CRRT mechanisms
Hemofiltration:
SCUF, CVHF: convection (hydrostatic pressure gradient)
CVVHD: diffusion down conc gradient
CVVHDF (combo): diffusion and convection
Treatment for homocysteinemia
Betaine (convert homocysteine to methionine, redirection)
Also folate and B12
MTHFR polymorphism
Gorlin syndrome cardiac mass
Fibroma
Grow
Left ventricle
PTCH1
Need early section
Risk for basal cell carcinoma
B6 dependent seizures control
ATQ deficiency
Increased lysine (diet restriction might help)
Elevated pipecoloc acid is plasma
Aicardi syndrome
Agenesis corpus callosum
Polymicrogyria/lissencephaly
Ocular abnormalities
Hemivertebrae
Seizures
TEAD1 gene, X link dominant chromosome (not always)
Females only, lethal male
