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x_ RITE Review > Child Neurology HY > Flashcards

Child Neurology HY Flashcards

1
Q

Anterior neuropore fusion defects

A

anencephaly, encephalocele

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2
Q

Posterior neuropore fusion defects

A

spina bifida, myelomeningocele

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3
Q

Tells notochord to become mesoderm

A

sonic hedgehog

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4
Q

Signal for lateral epidermal ectoderm

A

bone morphogenic proteins

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5
Q

Risk factors for NTDs (4)

A

folate def, DM, AEDs, vitamin A toxicity

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6
Q

cell of origin of CNS

A

ectoderm from neural tube

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7
Q

cell of origin of PNS

A

ectoderm from neural crest cells

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8
Q

cell of origin of vertebral bodies

A

mesoderm of notochord

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9
Q

balloon cells

A

focal cortical dysplasia

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10
Q

reduced visual acuity , panhypopituitarism , absent septum pellucidum

A

septo-optic dysplasia

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11
Q

smooth brain small chin thin upper lip, intractable seizures

A

lissencephaly type I, Miller-dieker, LIS1 gene on chrom 17 disorder of microtubules and dynein

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12
Q

smooth brain in males, double brain in females

A

DCX gene (doublecortin) x-linked

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13
Q

Three disorders with cobblestone cortical malformations

A

Walker-Warburg, Fukuyama MD, muscle-eye-brain disease

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14
Q

Molar tooth sign

A

Joubert syndrome, cerebellar hypoplasia

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15
Q

childhood obesity and intellectual disability

A

prader-willi, laurence-moon

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16
Q

inappropriate laughter, arm flapping, MRDD, seizures, prominent jaw

A

Angelman’s

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17
Q

Genetics of Prader-willi and Angelmans

A

both chrom 15 (Prader-Paternal and angelmans mAternal inheritance)

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18
Q

Developmental regression 6-18mos with hand wringing and microcephaly

A

Rett’s, MECP2

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19
Q

Cafe au lait

A

NF 1

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20
Q

shagreen patch

A

Tuberous-Sclerosis

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21
Q

Gene/chrom for NF 1

A

Neurofibromin chrom 17

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22
Q

NF2 gene/chrom

A

Merlin chrom 22

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23
Q

axillary/inguinal freckles

A

NF1

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24
Q

Lisch’s nodules

A

iris hamartomas NF1

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25
Q

Subependymal giant cell astrocytoma

A

Tuberous Sclerosis

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26
Q

Sphenoid wing dysplasia

A

NF1

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27
Q

Ashleaf spots

A

Tuberous Sclerosis

28
Q

Intellectual disability, large testes, protuberant ears

A

Fragile X, CGG

29
Q

Lymphangiomyomatosis

A

Tuberous Sclerosis females>males

30
Q

Treatment for hamartomas

A

rapamycin

31
Q

multiple AVMs intracranially

A

Osler-weber-Rendu, Hereditary Hemorrhagic telangiectasia

32
Q

hypopigmented streaks that follow skin lines

A

qhypomelanosis of Ito

33
Q

dental enamel pits

A

Tuberous sclerosis

34
Q

hyperpigmented cutaneous lesions and leptomeningeal melanoma

A

neurocutaneous melanosis

35
Q

Hemifacial atrophy

A

Parry-romberg syndrome

36
Q

multiple endochondromas and secondary hemangiomas

A

maffucci’s syndrome

37
Q

VHL

A

chrom 3, AD, hemangioblastomas

38
Q

x-linked Dominant disease that has nonspecific neurocutaneous findings

A

Incontinentia pigmenti, MEMO

39
Q

hypersensitivity to light with freckles, multiple malignancies, neuropathy, ataxia, cognitive decline

A

Xeroderma pigmentosa, DNA repair

40
Q

brittle hair, ilateral subdural hematomas, MRDD

A

Menkes: ATP7A mutation (bonus what is ATP7B ??)

41
Q

epileptic encephalopathy and hypoglycorrhachia

A

GLUT 1 , SLC2A1 gene, DeVivo syndrome

42
Q

Inverted nipples, prominent fat pads, low carbs in CSF, devo delay and dysmorphic facies

A

Congenital disorders of glycosylation

43
Q

urine with musty order

A

PKU

44
Q

Homocystinuria

A

CYSTthionine-beta-synthetase def

45
Q

Accumulation of isoleucine, leucine, valine in urine

A

MSUD

46
Q

Lesch-Nyhan

A

HGPRT

47
Q

wrinkled tissue paper cells

A

Gaucher’s disease - GLUCOcerebrosidase def

48
Q

Globoid cells

A

Krabbe disease - GALACTocerebroside-beta-galactosidase def

49
Q

GM1 gangliosidosis

A

beta galactosidase def

50
Q

Tay sach’s

A

Hexoaminadase A def

51
Q

Sandhoff’s

A

hexosaminidase A and B def

52
Q

Niemann Pick B and C

A

Acid sphingomyelinase def

53
Q

Niemann pick C

A

disorder of cholesterol trafficking in the intracellular domain

54
Q

Metachromatic leukodystrophy

A

Arylsulfatase A deficiency

55
Q

Fabry’’s

A

alpha-galactosidase, angiokeratomas, renal failure, HTN, strokes ANS dysfx

56
Q

Symmetric white matter involvement in the predominant in POSTERIOR regions,

A

Adrenoleukodystrophy

57
Q

Megalencephaly, symmetric white matter disease INVOLVES the u fibers

A

Canavan’s aspartoacylase def

58
Q

Megalencephaly , ANTERIOR white matter disease

A

Alexander’s disease, GFAP

59
Q

white matter disease with tigroid spares u fibers

A

Pilazeus Merzbacher gene PLP1 and x-linked

60
Q

Enlarge orange tonsils

A

tangiers

61
Q

Progressive external ophthalmoplegia, <20 y/o, short stature, ataxia, heart block, RP

A

kearns-sayre syndrome

62
Q

Feeding difficulties with N/V/D/jaundice,hepatosplenomegaly, cataracts

A

galactosemia

63
Q

alopecia, rash, hypotonia, sz, optic atrophy, hearing loss high ammonia

A

biotinidase def

64
Q

myoclonic seizure, blindness, curvilinear bodies

A

neruonal ceroid lipfuscinosis

65
Q

Gyral calcification in tram track appearance on MRI

A

Sturge-Weber

66
Q

Myoclonic epilepsy and cherry red spot

A

Sialidosis

x_ RITE Review (34 decks)

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