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Child Neuro Flashcards

1
Q

which embryonal layer gives rise to the nervous system?

A

ectoderm

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2
Q

what structures does the prosencephalon give rise to?

A

Telencephalon –> cerebral hemispheres

diencephalon–> thalamus and hypothalamus

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3
Q

what structures does the mesencephalon give rise to?

A

midbrain

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4
Q

what does the neural crest give rise to?

A

PNS, chromaffin cells of adrenal medulla, melanocytes

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5
Q

what induces differentiation of the ventral neural tube?

A

mesodermal cells of the notochord

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6
Q

what is the inheritance of galactosemia

A

AR

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7
Q

which enzyme defect causes “classic” galactosemia and leads to mental retardation if untreated.

A

galactose-1-phosphate uridyltransferase

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8
Q

urine findings in galactosemia

A

reducing substances

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9
Q

treatment of galactosemia

A

eliminating lactose and galactose from diet

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10
Q

elevated serum lactate with low lactate:pyruvate ratio

A

PDH deficiency

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11
Q

Most common enzyme deficiency in PDH, inheritence

A

E1, X-linked

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12
Q

What is the inheritance of PDH due to E2 and E3 enzymes

A

AR

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13
Q

treatment of PDH

A

keto diet and thiamine supplementation

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14
Q

drug used to treat episodic ataxia in PDH

A

acetezolemide

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15
Q

gene causing glut-1 deficiency

A

SLC2A1 on Chr 1p

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16
Q

blond, blue eyed with a musty odor

A

phenylketonuria (PKU)

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17
Q

enzyme deficiency in PKU

A

phenylalanine hydroxylase

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18
Q

inheritance of PKU

A

AR

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19
Q

cofactor of phenylalanine hydroxylase

A

tetrahydrobiopterin

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20
Q

lethargy and hypotonia after ingesting protein, maple syrup odor. What is enzyme deficiency?

A

maple syrup urine disease. branched chain alpha ketoacid dehydrogenase complex deficiency.

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21
Q

what are the branched chain amino acids?

A

Leucine, Isoleucine and ValinE (LIVE)

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22
Q

what is treatment of maple syrup urine disease?

A

low protein and branched chain AA free diet

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23
Q

pancytopenia, bleeding disorders, lactic acidosis and hyperammonemia

A

proprionic acidemia

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24
Q

HGPRT deficiency, inheritance.

A

Lesch-Nyhan. X-linked

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25
acid sphingomyelinase deficiency, foam cells
Neimann Pick A and B
26
Difference between Neimann Pick A and B
A involves CNS and viscera, B involves viscera only
27
positive filipin test
Neimann pick C
28
periventricular and subcortical white matter hyperintensity sparing U-fibers
Metachromatic leukodystrophy
29
enzyme defect in metachromatic leukodystrophy
Arylsulfatase A
30
cerebellar tonsil herniation with syrinx
Chiari I
31
cerebellar tonsil herniation with myelomeningocele
Chiari II
32
cherry red spot, myoclonus, visual deterioration
sialadosis
33
enzyme defect in sialadosis
alpha-neuraminidase
34
enzyme defect in Fabry's disease, inheritance
alpha galactosidase, X-linked
35
PPT1 or TPP1 deficiency
NCL
36
bony stippling of the patella
Zellweger syndrome
37
Gene mutation in Zellweger syndrome
PEX1
38
sensitivity to UV light, tremor, chorea, ataxia, neuropathy, hearing loss
Xeroderma pigmentosa
39
Acyl coenzyme A synthetase deficiency, inability ot oxidise VLCFAs
X-ALD
40
progressive external ophthalmoplegia, onset before age 20, heart block, increased CSF protein
Kearn-Sayre syndrome
41
inheritance of Congenital Disorders of Glycosylation
AR
42
vesiculobullous lesions, verrucous lesions, splashed-on hyperpigmented lesions
incontinentia pigmenti
43
gene involved in incontinentia pigmenti, inheritance
NEMO, X-dominant (only occurs in girls)
44
giant hairy nevus and leptomeningeal melanoma
neurocutaneous melanosis
45
hemifacial atrophy
Parry-Romberg syndrome
46
multiple endochondromas, hemangioma formation
Maffucci syndrome
47
spinal, retinal and cerebellar hemangioblastomas
VHL Syndrome
48
what type of disorders are megencephaly and FCD
neuronal proliferation
49
what type of disorders are Lssencephaly, periventricular nodular heterotopia
neuronal migration
50
what type of disorders are polymicrogyria ,schizencephaly
cortical organization
51
microcephaly, lissencephaly, micrognathia, low set ears, thin upper lip
Miller Dieker syndrome
52
hypopigmented streaks following Blaschko lines
hypomenlanosis of Ito
53
neuronal migration disorder associated with some types of muscular dystrophy
Cobblestone lissencephaly (lissencephaly Type II)
54
Gene involved in subcortical band heterotopia
DCX, on the X chromosome
55
dislocated lens, marfanoid habitus, mental retardation
homocysteinuria
56
biochemical findings in homocysteinuria
elevated plasma and urine homocysteine and methionine
57
first line treatment for homocysteinuria
trial of pyridoxine (since there is a responsive form)
58
Lisch nodules
NF1
59
what gene is associated with periventricular nodular heterotopia?
FLNa gene on X chromosome
60
encephalopathy, hyperammonemia, respiratory alkalosis
Urea cycle disorders
61
Two common neoplasms in NF2
Schwannomas and ependymomas
62
optic glioma
NF1
63
most common inherited form of mental retardation
Fragile X
64
trinucleotide repeat in Fragile X
CGG
65
paternally inherited 15q11 deletion
prader willi
66
upper motor neuron cells
Betz cells
67
glucocerebrocidase deficiency
goucher disease
68
regression, macrocephaly, cherry red spot
Tay sachs (a GM2 gangliosidosis)
69
regression, macrocephaly, cherry red spot, hepatomegaly
Sandhoff disease (a GM2 gangliosidosis)
70
Hexosaminidase A deficiency
tay sachs disease
71
Hexosaminidase A & B deficiency
Sandhoff disease
72
Leukodystrophy that involves U-fibers, has macrocephaly, and is autosomal recessive
Canavan Disease
73
N-acetylaspartic acid accumulation
Canavan disease
74
gyral calcifications in a tram track pattern
Sturge Weber Syndrome
75
poor feeding and hiccoughs shortly after birth
glycine encephalopathy
76
globoid cells on pathology, leukodystrophy with spared U-fibers
Krabbe disease
77
substance that accumulates in macrophages in Krabbe disease
galactocerebroside
78
enzyme defect in Krabbe disease
galactocerebroside beta-galactosidase
79
regression, cherry red spot, coarse facial features, hepatosplenomegaly
GM1 gangliosidosis
80
enzyme defect in GM1 gangliosidosis
B-galactosidase
81
leukodystrophy involving frontal white matter with invovlement of U-fibers.
Alexander disease
82
gene involved in Alexander disease
GFAP
83
pendular nystagmus, ataxia, regression, diffuse demyelination with tigroid appearance.
Pelizaeus-Merzbacher disease.
84
gene involved in Pelizaeus-Merzbacher disease
PLP1
85
only mucopolysaccharidosis that isn't autosomal recessive.
Hunter Syndrome. X-linked
86
bouts of abdominal pain and vomiting with peripheral neuropathy.
acute intermittent porphyria
87
inheritance of acute intermittent porphyria
AD
88
medication to avoid in intermittent porphyria
most AEDs, but especially barbiturates
89
lipid profile in patients with Tangier disease
low HDL, low total cholesterol, high triglycerides
90
inheritance of Menke's disease, gene invovled, what metabolism is dysfunctional?
X-linked recessive. ATP7A, copper metabolism
91
ataxia, posterior column signs, peripheral neuropathy, loose stools
abetalipoproteinemia.
92
lab findings in Abetalipoproteinemia
absence of VLDL, low vit E, severe anemia
93
death in infancy, necrosis of pons, thalamus, inferior olive, and spinal cord
leigh's disease
94
what structures does the rhombencephalon give rise to?
Metencephalon--> pons and cerebellum | Myelencephalon --> medulla
95
what gene is involved in NF1? what chromosome?
Neurofibromin, Chr 17
96
what gene is involved in NF2? What chromosome?
Merlin, Chr22
97
what is the inheritance of pelizius-merzbacher disease?
X-linked
98
what protein does TSC1 code for? What chromosome?
Hamartin, CHr9
99
what protein does TSC2 code for? What chromosome?
Tuberin, Chr 16

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