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Clinical Neurology > Child Neurology > Flashcards

Child Neurology Flashcards

1
Q

anterior neuropore fusion defects

A

anencephaly & encephlocele

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2
Q

posterior neuropore fusion defects

A

spina bifida, myelomeningocele

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3
Q

signals from neural tube differentiation

A

from mesoderm of notochord: sonic hedgehog
from lateral epidermal ectoderm: bone morphogenic proteins

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4
Q

risk factors for neural tube defects

A

folate deficiency
AEDs
maternal diabetes
vitamin A toxicity

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5
Q

cell of origin of CNS

A

ectoderm - derived from NEURAL TUBE

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6
Q

cell of origin of PNS

A

ectoderm - derived from NEURAL CREST CELLS

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7
Q

cell of origin of vertebral bodies

A

mesoderm of NOTOCHORD

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8
Q

balloon cells

A

focal cortical dysplasia, a cortical developmental disorder of cell proliferation

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9
Q

holoprosencephaly

A

failure of prosencephalon to divide into cerebral hemisphere & other structures.
problem during 4-8 wk of gestation

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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, intractractable seizure

A

Lissencephaly type 1, Miller-Dieker syndrome, LIS1 gene, CHROMOSOME 17, disorder of microtubles and dynenin

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12
Q

DCX gene (doublecortin protein) abnormality: phenotype & mod of inheritance

A

X-linked lissencephaly, DCX gene
X-linked: gene mutation leads to smooth brain in MALES & double cortex in FEMALES

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13
Q

three disorders associated w/ cobblestone cortical malformaiton

A

walker-warburg syndrome
fukuyama muscular dystrophy
muscle-eye-brain disease
*developmental delays, seizures, muscular dystrophy, eye abnormalities

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14
Q

molar tooth sign

A

joubert’s syndrome & other disorders of cerebellar hypoplasia

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15
Q

childhood obesity & intellectual disability

A

prader-willi syndrome
laurence-moon syndrome

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16
Q

inappropriate laughter, arm flapping, intellectual disability, seiures, prominent jaw

A

angelman’s syndrome

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17
Q

genetic disoder in prader-will & angelman’s syndrome

A

Chromosome 15q11-q13
prader-willi - paternally inheried
Angelman’s syndrome - maternally inherited

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18
Q

intellectual disability, protruberant ears and large testes

A

FRAGILE X = CGG trinucleotide expansion
(trick = Child with Giant Gonads)

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19
Q

developmental regression at approx 6-18 months of age w/ hand wringing & microcephaly in female

A

Rett’s syndrome, MECP2 gene mutation; CDKL5 mutation results in rett like syndrome with earlier onset seizures

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20
Q

NF1

A

NEUROFIBRIN GENE - CH 17
- cafe au lait macules
- cutaneous neurofibromas
- axillary or inguinal freckling
- Lisch’s nodules = IRIS hamartomas
- sphenoid wing dysplasia

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21
Q

NF2

A

MERLIN gene = CH 22
- bilateral vestibular schwanomas

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22
Q

tuberous sclerosis complex

A
  • shagreen patch
  • subependymal giant cell astrocytomas
  • ashleaf spots (hypometanotic lesions)
  • lymphangiomyomatosis
  • dental enamel pits
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23
Q

tx that may inhibit growth of harmatoms in tuberous sclerosis complex

A

rapamycin & its analogues

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24
Q

multiple intracranial AVMs

A

hereditary hemorrhagic telangiectasia or osler-weber-rendu syndrome

25
Q

hypopigmented streaks that follow skin lines

A

hypomelanosis of Ito

26
Q

hyperpigmented cutaneous lesions & leptomeningeal melanoma

A

neurocutaneous melanosis

27
Q

hemifacial atrophy

A

parry-romberg syndrome

28
Q

multiple endochrondromas & secondary hemangiomas

A

maffucci’s syndrome

29
Q

retinal, cerebellar and spinal hemangioblastomas; chromosome + mode of inheritance

A

von hippel lindau disease
VHL gene
CHROMOSOME 3
AD

30
Q

freckles, muliple skin and systemic malignancies, neuropathy, ataxia, cognitive decline

A

xeroderma pigmentosa
-defect in DNA repair leading to sensitivity to UV light

31
Q

brittle hair, bilateral subdural hematomas, developmental delay

A

Menkes disease (kinky hair syndrome) - in babies
- due to copper deficiency
-ATP7A mutation

32
Q

epileptic encephalopahty and low csf glucose level

A

glucose transporter type 1 deficiency
GLUT 1 transporter
SLC2A1 gene
DeVivo syndrome

33
Q

developmental delay, dysmorphic features, inverted nipples and porminent fat pads. Carbohydrate-deficient transferrin in the CSF

A

congenital disorders of GLYCOSYLATION

34
Q

urine w/ musty odor

A

phenylketonuria = PKU

35
Q

cystathionine B synthase deficiency

A

homocystinuria

36
Q

accumulation of branced chain amino acids: leucine, isoluecine, valine

A

maple syrup urine disease

37
Q

intellectual disability, aggressiveness, self mutilation, hyperuricemia (gout & nephrolithiasis)

A

lesch-nyham syndrome: hypoxanthine guanine phosphoribosyltransferase deficiency

38
Q

gaucher’s cells: “wrinkled tissue paper” cells

A

gaucher’s disease = glucocerebrosidase deficiency

39
Q

globoid cells

A

krabbe’s disease: galactocerebroside B-galactosidase deficiency

40
Q

B-galactosidase deficiency

A

GM1 gangliosidosis

41
Q

hexosaminidase A deficiency

A

Tay-sachs disease

42
Q

Hexosaminidase A & B def

A

sandhoff’s disease

43
Q

acid sphingomyelinase deficiency

A

niemann pick types A & B

44
Q

disorder of cholesterol trafficking in the intracellular domain

A

niemann pick type C

45
Q

metachromatic leukodystrophy

A

arylsulfatase A deficiency

46
Q

angiokeratomas, renal failure, htn, storeks, autonomic dysfxn

A

fabry’s disease = ALPHA-GALACTOSIDASE DEFICIENCY

47
Q

symmetric white matter involment predominantly in hte posteior regions, sparing the U fibers

A

adrenoleukodystrophy

48
Q

megalencephaly, symmetric white matter diseaseas involving the U fibers. N-acetylaspartic acid peak on MR spectroscopy

A

Cavan’s disease: ASPARTOACYLASE DEFICIENCY

49
Q

Megalencephaly, symmetric white matter involvement predominantly in the ANTERIOR regions &
ROSENTHAL fibers on histopath

A

Alexander’s disease: Mutation in the glial fibrillary acidic protein, GFAP

50
Q

white matter demyelination with “tigroid” apperance sparing the U fibers

A

pelizaeus-merzhacher disease: Gene PLP1, X-LINKED

51
Q

Progressive external ophthalmoplegia, onset younger than 20 years, short stature, ataxia, heart block retinitis pigmentosa, CSF protein > 100 mg/dL

A

Kearns-Sayre syndrome

52
Q

get an EKG and if there is a block, place a pacemaker

A

Kearns-Sayre syndrome

53
Q

feeding difficulties, voiting, diarrhea, jaundiced, hepatosplenomeglay, FTT, cataracts, and reducing substances in urine

A

galactosemia

54
Q

triad of hyperammonemia, encephalopathy, and respiratory alkalosis
- No evidence of organic acidemias, normal anion gaps, normal serum glucose level

A

urea cycle disorders

55
Q

new born babies with ketoacidosis, anion gap, elevated propionic acid level in the blood

A

propionic acidemia

56
Q

alopecia, skin rash, hypotonia, seizures, optic atrophy, hearing loss, hyperammonemia

A

biotinidase deficiency

57
Q

psychomotor retardation, myoclonic seizures, and blindness. intraneuronal deposits seen on EM (fingerprint bodies, granular osmiophilic deposits, curvilinear bodies and rectilinear profiles)

A

neuronal ceroid lipofuscinosis

58
Q

gyral calcifications in tram-track appearnace on MRI

A

sturge-weber syndrome

59
Q

myoclonic epilepsy & cherry red spot

A

sialidosis

Clinical Neurology (12 decks)

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