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Neuro II Exam 1 > Congenital Malformations - Fremont-Smith > Flashcards

Congenital Malformations - Fremont-Smith Flashcards

1
Q

pregnant women X-ray

A

damage is real risk

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2
Q

critical period for malformation

A

3-8 weeks gestation

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3
Q

malformation

A

flawed development

-no gliosis

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4
Q

disruption

A

destruction of normal brain

-yes gliosis

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5
Q

radiation

A

risk with malformation and disruption

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6
Q

timing of exposure

A

important for malformations and disruptions

ex/ CMV

  • before midgestation- microcephaly and polymicroglyia
  • third trimester - encephalitis
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7
Q

neural tube defects

A

neural tube closure defects
axial mesodermal defects
tail bud defects

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8
Q

cause of neural tube defect

A

folate deficiency
valproic acid
hyper/hypo glucose

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9
Q

no brain in anencephaly

A

amniotic fluid toxic

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10
Q

NT closure defect

A

anencephaly
chraniorachischisis
myelomeningocele

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11
Q

axial mesodermal defects

A

closed - split cord

herniation - encephalocele or meningocele

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12
Q

tail bud defect

A

spina bifida occulta
low split cord
hydromyelia

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13
Q

ciliopathy

A

NT closure defects

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14
Q

most common neural tube defect

A

anencephaly

detect on US

often with spina bifida

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15
Q

elevated alpha-fetoprotein and AChE

A

anencephaly

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16
Q

association of anencephaly

A

adrenal hypoplasia - no hypothalamus

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17
Q

craniorachischisis

A

all open neural tube

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18
Q

myelomeningocele

A

herniation of CNS through vertebral defect

often lumbosacral

risk of infection

surgical correction

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19
Q

meningocele

A

vertebral defect herniation - no CNS tissue

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20
Q

spina bifida occulta

A

no skin defect - may be hair tuft

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21
Q

ciliopathies

A

meckel gruber syndrome

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22
Q

encephalocele

A

defect or mesoderm development (skull)

herniation through axial defect of skull

meninges herniate with brain tissue

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23
Q

meckel gruber syndrome

A

with encephalocele

enlarged kidneys
polydactylyl

24
Q

kinesin

A

anterograde transport

25
Q

dynein

A

retrograde transport

26
Q

mutated polycystin 1 or 2

Wnt and Hedgehog signaling dysfunction

A

loss of cell polarity

cystic tubular expansion

polycystic kidney disease

27
Q

hydromyelia

A

over distension of central canal

pain in neck / numb shoulders

HAs

leg or hand weakness

problem walking

poor bowel and bladder control

28
Q

small posterior fossa

A

chiaria malformations

29
Q

larger posterior fossa

A

dandy-walker malformation

30
Q

chiaria type 1

A

herniation cerebellar tonsil

often with syringomyelia - central cord larger and liquefy
-obstructed flow of CSF

no neural tube defect

cape like loss of pain and temp sensation

31
Q

chiari malformation imaging

A

best on MRI

32
Q

chiari type 2

A

with myelomeningocele

shallow posterior fossa and large foramen magnum
-herniate vermis and tonsils

with hydrocephalus

33
Q

dandy walker malformation

A

larger posterior fossa

absence of vermis

often with hydrocephalus

atresia of foramen of luschka

34
Q

obstructive hydrocephalus

A

obstruction of foramen of monro, third ventricle, aqueduct, foramen of luschka, SA space fibrosis, defective filtration of CSF, hydrocephalus ex vacuo

35
Q

hydrocephalus ex vacuo

A

dilation of cerebral ventricles due to loss of brain tissue

with wasting brain diseases

36
Q

damage with hydrocephalus

A

periventricular white matter - lose myelin and axons

37
Q

holoprosencephaly

A

4-6 week gestation

absence of cleavage of prosencephalon

maternal DM, toxo, syphilis, rubella, FAS

associated with patau - trisomy 13

38
Q

mutation of sonic hedgehog

A

midline facial and CNS structure defects

like holoprosencephaly

39
Q

cyclopia, cleft lip

A

with holoprosencephaly

40
Q

agenesis of corpus callosum

A

with other cerebral abnormalities

asymptomatic or seizures/psychomotor retardation

41
Q

abnormal neuronal-glial proliferation or apoptosis

A

microcephaly

megalencephaly

42
Q

abnormal neuronal migration

A

periventricular nodular heterotopia
lissenephaly
cobblestone cortex

43
Q

abnormal cortical organization

A

polymicrogyria

focal cortical dysplasia

44
Q

as germ cells develop

A

climb glial scaffolds

last cells are oligodendrocytes
-no myelin early - susceptible to damage

45
Q

subcortical band heterotopia

A

neurons migrate half way

46
Q

periventricular nodular heterotopia

A

neurons do not migrate at all

47
Q

cobblestone cortex

A

neurons overshoot cortex and end up in SA space

48
Q

late stage migration and organization interrupted

A

polymicrogyria

49
Q

alcohol

A

affects process of neuron migration

50
Q

fewer or more neurons produced than normal

A

microcephaly

megalencephaly

51
Q

lissencephaly

A

smooth brain

defective neuron migration

LIS1 mutation

no gyri

microtubule motor protein and microtubular dysfunction

52
Q

polymicrogyria

A

increased number of gyri

disrupted neuron migration

53
Q

focal cortical dysplasia

A

most frequent removed brain tissue in epilepsy**

intractable seizures and cognitive impairment

54
Q

FCD pathology

A

abnormal cortical with loss of normal layering of germ cells

often have hippocampal sclerosis - older patients

55
Q

trisomy 18

A

quad screen all down

56
Q

trisomy 21

A

beta-hcg and inhibin A elevated

AFP and estriol decreased

Neuro II Exam 1 (14 decks)

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