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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
Q

acid sphingomyelinase deficiency, foam cells

A

Neimann Pick A and B

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26
Q

Difference between Neimann Pick A and B

A

A involves CNS and viscera, B involves viscera only

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27
Q

positive filipin test

A

Neimann pick C

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28
Q

periventricular and subcortical white matter hyperintensity sparing U-fibers

A

Metachromatic leukodystrophy

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29
Q

enzyme defect in metachromatic leukodystrophy

A

Arylsulfatase A

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30
Q

cerebellar tonsil herniation with syrinx

A

Chiari I

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31
Q

cerebellar tonsil herniation with myelomeningocele

A

Chiari II

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32
Q

cherry red spot, myoclonus, visual deterioration

A

sialadosis

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33
Q

enzyme defect in sialadosis

A

alpha-neuraminidase

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34
Q

enzyme defect in Fabry’s disease, inheritance

A

alpha galactosidase, X-linked

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35
Q

PPT1 or TPP1 deficiency

A

NCL

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36
Q

bony stippling of the patella

A

Zellweger syndrome

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37
Q

Gene mutation in Zellweger syndrome

A

PEX1

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38
Q

sensitivity to UV light, tremor, chorea, ataxia, neuropathy, hearing loss

A

Xeroderma pigmentosa

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39
Q

Acyl coenzyme A synthetase deficiency, inability ot oxidise VLCFAs

A

X-ALD

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40
Q

progressive external ophthalmoplegia, onset before age 20, heart block, increased CSF protein

A

Kearn-Sayre syndrome

41
Q

inheritance of Congenital Disorders of Glycosylation

A

AR

42
Q

vesiculobullous lesions, verrucous lesions, splashed-on hyperpigmented lesions

A

incontinentia pigmenti

43
Q

gene involved in incontinentia pigmenti, inheritance

A

NEMO, X-dominant (only occurs in girls)

44
Q

giant hairy nevus and leptomeningeal melanoma

A

neurocutaneous melanosis

45
Q

hemifacial atrophy

A

Parry-Romberg syndrome

46
Q

multiple endochondromas, hemangioma formation

A

Maffucci syndrome

47
Q

spinal, retinal and cerebellar hemangioblastomas

A

VHL Syndrome

48
Q

what type of disorders are megencephaly and FCD

A

neuronal proliferation

49
Q

what type of disorders are Lssencephaly, periventricular nodular heterotopia

A

neuronal migration

50
Q

what type of disorders are polymicrogyria ,schizencephaly

A

cortical organization

51
Q

microcephaly, lissencephaly, micrognathia, low set ears, thin upper lip

A

Miller Dieker syndrome

52
Q

hypopigmented streaks following Blaschko lines

A

hypomenlanosis of Ito

53
Q

neuronal migration disorder associated with some types of muscular dystrophy

A

Cobblestone lissencephaly (lissencephaly Type II)

54
Q

Gene involved in subcortical band heterotopia

A

DCX, on the X chromosome

55
Q

dislocated lens, marfanoid habitus, mental retardation

A

homocysteinuria

56
Q

biochemical findings in homocysteinuria

A

elevated plasma and urine homocysteine and methionine

57
Q

first line treatment for homocysteinuria

A

trial of pyridoxine (since there is a responsive form)

58
Q

Lisch nodules

A

NF1

59
Q

what gene is associated with periventricular nodular heterotopia?

A

FLNa gene on X chromosome

60
Q

encephalopathy, hyperammonemia, respiratory alkalosis

A

Urea cycle disorders

61
Q

Two common neoplasms in NF2

A

Schwannomas and ependymomas

62
Q

optic glioma

A

NF1

63
Q

most common inherited form of mental retardation

A

Fragile X

64
Q

trinucleotide repeat in Fragile X

A

CGG

65
Q

paternally inherited 15q11 deletion

A

prader willi

66
Q

upper motor neuron cells

A

Betz cells

67
Q

glucocerebrocidase deficiency

A

goucher disease

68
Q

regression, macrocephaly, cherry red spot

A

Tay sachs (a GM2 gangliosidosis)

69
Q

regression, macrocephaly, cherry red spot, hepatomegaly

A

Sandhoff disease (a GM2 gangliosidosis)

70
Q

Hexosaminidase A deficiency

A

tay sachs disease

71
Q

Hexosaminidase A & B deficiency

A

Sandhoff disease

72
Q

Leukodysrophy that involves U-fibers and has Meganencephaly

A

Canavan Disease

73
Q

N-acetylaspartic acid accumulation

A

Canavan disease

74
Q

gyral calcifications in a tram track pattern

A

Sturge Weber Syndrome

75
Q

poor feeding and hiccoughs shortly after birth

A

glycine encephalopathy

76
Q

globoid cells on pathology, leukodystrophy with spared U-fibers

A

Krabbe disease

77
Q

substance that accumulates in macrophages in Krabbe disease

A

galactocerebroside

78
Q

enzyme defect in Krabbe disease

A

galactocerebroside beta-galactosidase

79
Q

regression, cherry red spot, coarse facial features, hepatosplenomegaly

A

GM1 gangliosidosis

80
Q

enzyme defect in GM1 gangliosidosis

A

B-galactosidase

81
Q

leukodystrophy involving frontal white matter with invovlement of U-fibers.

A

Alexander disease

82
Q

gene involved in Alexander disease

A

GFAP

83
Q

pendular nystagmus, ataxia, regression, diffuse demyelination with tigroid appearance.

A

Pelizaeus-Merzbacher disease.

84
Q

gene involved in Pelizaeus-Merzbacher disease

A

PLP1

85
Q

only mucopolysaccharidosis that isn’t autosomal recessive.

A

Hunter Syndrome. X-linked

86
Q

bouts of abdominal pain and vomiting with peripheral neuropathy.

A

acute intermittent porphyria

87
Q

inheritance of acute intermittent porphyria

A

AD

88
Q

medication to avoid in intermittent porphyria

A

most AEDs, but especially barbiturates

89
Q

lipid profile in patients with Tangier disease

A

low HDL, low total cholesterol, high triglycerides

90
Q

inheritance of Menke’s disease, gene invovled, what metabolism is dysfunctional?

A

X-linked recessive. ATP7A, copper metabolism

91
Q

ataxia, posterior column signs, peripheral neuropathy, loose stools

A

abetalipoproteinemia.

92
Q

lab findings in Abetalipoproteinemia

A

absence of VLDL, low vit E, severe anemia

93
Q

death in infancy, necrosis of pons, thalamus, inferior olive, and spinal cord

A

leigh’s disease

94
Q

what structures does the rhombencephalon give rise to?

A

Metencephalon–> pons and cerebellum

Myelencephalon –> medulla

95
Q

what gene is involved in NF1? what chromosome?

A

Neurofibromin, Chr 17

96
Q

what gene is involved in NF2? What chromosome?

A

Merlin, Chr22

97
Q

what is the inheritance of pelizius-merzbacher disease?

A

X-linked

98
Q

what protein does TSC1 code for? What chromosome?

A

Hamartin, CHr9

99
Q

what protein does TSC2 code for? What chromosome?

A

Tuberin, Chr 16

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