17.1 Developmental Anomalies Flashcards

1
Q

CNS developmental anomalies

-list them (4 general categories to know in pathoma)

A
  1. Neural tube defects (anencephaly, spina bifida)
  2. Cerebral aqueduct stenosis
  3. Dandy-Walker malformation (no vermis)
  4. Arnold-Chiari Malformation (type 2)–congenital herniation of tonsils/vermis
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2
Q

Cerebral aqueduct stenosis

  • mech
  • presentation
A

congenital stenosis of channel that drains 3rd to 4th ventricle

-enlarging head circumference due to dilation of ventricles (cranial suture lines not fused yet)

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3
Q

What is most common cause of hydrocephalus in newborns?

A

Cerebral aqueduct stenosis

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4
Q

Neural tube defects

  1. assoc with what during/before pregnancy
  2. How to detect during pregnancy?
A
  1. Low folate levels prior to conception
  2. Elevated AFP levels in amniotic fluid and maternal blood.
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5
Q

Arnold-Chiari malformation

  • mech
  • presentation
  • assoc with what
A

congenital displacement downwards, of vermis and tonsils through foramen magnum

  • hydrocephalus
  • assoc with meningomyelocele
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6
Q

Anencephaly

  • mech
  • presentation (2)
A
  • absence of skull and brain
  • (disruption of cranial end of neural tube)
    1. ‘frog’like appearance
    2. maternal polyhydramnios (fetal swallowing is impaired)
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7
Q

Development of neural tube

-what does each part become (3)

A

(see picture)

  1. neural crest cells, become PNS
  2. neural tube wall, become CNS
  3. Lumen of neural tube, becomes ventricles and spinal cord canal
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8
Q

types of spina bifida (3)

A
  1. spina bifida occulta–path of hair overlying the defect
  2. meningocele–protrustion of meninges
  3. meningomyelocele–meninges and spinal cord
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9
Q

Frog like appearance

-what is this

A

anencephaly

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10
Q

Pregnant woman’s blood has elevated AFP, and so does the amniotic fluid

-think what

A

-possible neural tube defect

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11
Q

Dandy-Walker malformation

A

congenital failure of vermis to form

  1. massively dilated 4th ventricle, absent cerebellum
  2. hydrocephalus
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12
Q

Meningocele vs meningomyelocele

A

meningocele: protrusion of meninges

meningomyelocele–meninges and spinal cord

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