Child Neuro Flashcards
which embryonal layer gives rise to the nervous system?
ectoderm
what structures does the prosencephalon give rise to?
Telencephalon –> cerebral hemispheres
diencephalon–> thalamus and hypothalamus
what structures does the mesencephalon give rise to?
midbrain
what does the neural crest give rise to?
PNS, chromaffin cells of adrenal medulla, melanocytes
what induces differentiation of the ventral neural tube?
mesodermal cells of the notochord
what is the inheritance of galactosemia
AR
which enzyme defect causes “classic” galactosemia and leads to mental retardation if untreated.
galactose-1-phosphate uridyltransferase
urine findings in galactosemia
reducing substances
treatment of galactosemia
eliminating lactose and galactose from diet
elevated serum lactate with low lactate:pyruvate ratio
PDH deficiency
Most common enzyme deficiency in PDH, inheritence
E1, X-linked
What is the inheritance of PDH due to E2 and E3 enzymes
AR
treatment of PDH
keto diet and thiamine supplementation
drug used to treat episodic ataxia in PDH
acetezolemide
gene causing glut-1 deficiency
SLC2A1 on Chr 1p
blond, blue eyed with a musty odor
phenylketonuria (PKU)
enzyme deficiency in PKU
phenylalanine hydroxylase
inheritance of PKU
AR
cofactor of phenylalanine hydroxylase
tetrahydrobiopterin
lethargy and hypotonia after ingesting protein, maple syrup odor. What is enzyme deficiency?
maple syrup urine disease. branched chain alpha ketoacid dehydrogenase complex deficiency.
what are the branched chain amino acids?
Leucine, Isoleucine and ValinE (LIVE)
what is treatment of maple syrup urine disease?
low protein and branched chain AA free diet
pancytopenia, bleeding disorders, lactic acidosis and hyperammonemia
proprionic acidemia
HGPRT deficiency, inheritance.
Lesch-Nyhan. X-linked
acid sphingomyelinase deficiency, foam cells
Neimann Pick A and B
Difference between Neimann Pick A and B
A involves CNS and viscera, B involves viscera only
positive filipin test
Neimann pick C
periventricular and subcortical white matter hyperintensity sparing U-fibers
Metachromatic leukodystrophy
enzyme defect in metachromatic leukodystrophy
Arylsulfatase A
cerebellar tonsil herniation with syrinx
Chiari I
cerebellar tonsil herniation with myelomeningocele
Chiari II
cherry red spot, myoclonus, visual deterioration
sialadosis
enzyme defect in sialadosis
alpha-neuraminidase
enzyme defect in Fabry’s disease, inheritance
alpha galactosidase, X-linked
PPT1 or TPP1 deficiency
NCL
bony stippling of the patella
Zellweger syndrome
Gene mutation in Zellweger syndrome
PEX1
sensitivity to UV light, tremor, chorea, ataxia, neuropathy, hearing loss
Xeroderma pigmentosa
Acyl coenzyme A synthetase deficiency, inability ot oxidise VLCFAs
X-ALD
progressive external ophthalmoplegia, onset before age 20, heart block, increased CSF protein
Kearn-Sayre syndrome
inheritance of Congenital Disorders of Glycosylation
AR
vesiculobullous lesions, verrucous lesions, splashed-on hyperpigmented lesions
incontinentia pigmenti
gene involved in incontinentia pigmenti, inheritance
NEMO, X-dominant (only occurs in girls)
giant hairy nevus and leptomeningeal melanoma
neurocutaneous melanosis
hemifacial atrophy
Parry-Romberg syndrome
multiple endochondromas, hemangioma formation
Maffucci syndrome
spinal, retinal and cerebellar hemangioblastomas
VHL Syndrome
what type of disorders are megencephaly and FCD
neuronal proliferation
what type of disorders are Lssencephaly, periventricular nodular heterotopia
neuronal migration
what type of disorders are polymicrogyria ,schizencephaly
cortical organization
microcephaly, lissencephaly, micrognathia, low set ears, thin upper lip
Miller Dieker syndrome
hypopigmented streaks following Blaschko lines
hypomenlanosis of Ito
neuronal migration disorder associated with some types of muscular dystrophy
Cobblestone lissencephaly (lissencephaly Type II)
Gene involved in subcortical band heterotopia
DCX, on the X chromosome
dislocated lens, marfanoid habitus, mental retardation
homocysteinuria
biochemical findings in homocysteinuria
elevated plasma and urine homocysteine and methionine
first line treatment for homocysteinuria
trial of pyridoxine (since there is a responsive form)
Lisch nodules
NF1
what gene is associated with periventricular nodular heterotopia?
FLNa gene on X chromosome
encephalopathy, hyperammonemia, respiratory alkalosis
Urea cycle disorders
Two common neoplasms in NF2
Schwannomas and ependymomas
optic glioma
NF1
most common inherited form of mental retardation
Fragile X
trinucleotide repeat in Fragile X
CGG
paternally inherited 15q11 deletion
prader willi
upper motor neuron cells
Betz cells
glucocerebrocidase deficiency
goucher disease
regression, macrocephaly, cherry red spot
Tay sachs (a GM2 gangliosidosis)
regression, macrocephaly, cherry red spot, hepatomegaly
Sandhoff disease (a GM2 gangliosidosis)
Hexosaminidase A deficiency
tay sachs disease
Hexosaminidase A & B deficiency
Sandhoff disease
Leukodystrophy that involves U-fibers, has macrocephaly, and is autosomal recessive
Canavan Disease
N-acetylaspartic acid accumulation
Canavan disease
gyral calcifications in a tram track pattern
Sturge Weber Syndrome
poor feeding and hiccoughs shortly after birth
glycine encephalopathy
globoid cells on pathology, leukodystrophy with spared U-fibers
Krabbe disease
substance that accumulates in macrophages in Krabbe disease
galactocerebroside
enzyme defect in Krabbe disease
galactocerebroside beta-galactosidase
regression, cherry red spot, coarse facial features, hepatosplenomegaly
GM1 gangliosidosis
enzyme defect in GM1 gangliosidosis
B-galactosidase
leukodystrophy involving frontal white matter with invovlement of U-fibers.
Alexander disease
gene involved in Alexander disease
GFAP
pendular nystagmus, ataxia, regression, diffuse demyelination with tigroid appearance.
Pelizaeus-Merzbacher disease.
gene involved in Pelizaeus-Merzbacher disease
PLP1
only mucopolysaccharidosis that isn’t autosomal recessive.
Hunter Syndrome. X-linked
bouts of abdominal pain and vomiting with peripheral neuropathy.
acute intermittent porphyria
inheritance of acute intermittent porphyria
AD
medication to avoid in intermittent porphyria
most AEDs, but especially barbiturates
lipid profile in patients with Tangier disease
low HDL, low total cholesterol, high triglycerides
inheritance of Menke’s disease, gene invovled, what metabolism is dysfunctional?
X-linked recessive. ATP7A, copper metabolism
ataxia, posterior column signs, peripheral neuropathy, loose stools
abetalipoproteinemia.
lab findings in Abetalipoproteinemia
absence of VLDL, low vit E, severe anemia
death in infancy, necrosis of pons, thalamus, inferior olive, and spinal cord
leigh’s disease
what structures does the rhombencephalon give rise to?
Metencephalon–> pons and cerebellum
Myelencephalon –> medulla
what gene is involved in NF1? what chromosome?
Neurofibromin, Chr 17
what gene is involved in NF2? What chromosome?
Merlin, Chr22
what is the inheritance of pelizius-merzbacher disease?
X-linked
what protein does TSC1 code for? What chromosome?
Hamartin, CHr9
what protein does TSC2 code for? What chromosome?
Tuberin, Chr 16
