Neuro Lecture 37: Developmental Neuro

Front 1

SHH mutation is associated with what?

Back 1

Holoprosencephaly

Front 2

Doublecortin mutation is associated with what?

Back 2

Lissencephaly

Front 3

Which chromosome is associated with HPE?

Back 3

Chr13

Front 4

When in development do defects in neural tube development occur?

Back 4

Weeks 3 & 4

Front 5

What do you screen for to find neural tube defects?

Back 5

Alpha-fetoprotein

Front 6

Craniorachischisis

Back 6

Neural tube defect. Failure of closure of both anterior and posterior neuropores. Anencephaly with exposed spinal cord.

Front 7

Anencephaly

Back 7

Failure of closure of anterior neuropore.

Front 8

Area cerebrovasculosa

Back 8

Mass of disorganized neuroepithelial tissue and blood vessels in place of the disrupted forebrain in anencephaly.

Front 9

Encephalocele

Back 9

Herniation of neural tube through occipital region. Failure of fusion of posterior skull.

Front 10

Spina bifida

Back 10

Failure of closure of posterior neuropore

Front 11

Myelocele

Back 11

Open flat disk of neural and vascular tissue with no skin covering

Front 12

Myelomeningocele

Back 12

Sac of meninges, spinal cord and nerve roots that herniated through a spinal defect.

Front 13

Meningocele

Back 13

Herniated sac consists of just meninges

Front 14

Which medications have been linked to HPE?

Back 14

Cholesterol biosynthesis inhibitors; cholesterol is required for SHH signaling.

Front 15

Pachygyria

Back 15

Reduced number of coarse, broadened gyri with thick cortical plate

Front 16

Lissencephaly: when in development?

Back 16

Brain develops normally in early pregnancy, but then fails to progress normally after the third to fourth month.

Front 17

Classical (Type I) Lissencephaly (Miller Dieker Syndrome)

Back 17

Failure in normal cell migration. Diffuse or widespread agyria. Microcephalic by one year of age.

Front 18

Deletion in Classical Lissencephaly

Back 18

Chr17, LIS1 gene

Front 19

Type II Lissencephaly

Back 19

Failure of formation of the glial-pial limitans. Agyria and cobblestone appearance.

Front 20

Four cardinal features of Arnold-Chiari Malformation (Chiari Type II)

Back 20

Hydrocephalus; small, shallow posterior fossa; downward displacement of the cerebellum with herniation of the cerebellar tonsils; sacral myelomeningocele.

Front 21

Presentation of Arnold-Chiari Malformation in young infants

Back 21

Impaired gag reflexes, impaired swallowing, and episodes of apnea due to dysfunction of cranial nerves 9, 10, 11, and 12.

Front 22

Dandy-Walker Malformation

Back 22

Enlarged posterior fossa; aplasia or hypoplasia of cerebellar vermis; large midline cystic dilation of the fourth ventricle.

Front 23

Multicystic encephalopathy

Back 23

Extensive ischemic damage to the brain. Lace-like cortex and white matter.

Front 24

Periventricular leukomalacia

Back 24

Inadequate perfusion of the vascular watershed zone in deep white matter during periods of hypotension in the prenatal period. Most common ischemic injury in premature infants.

Front 25

Bilateral, chalky yellow plaques seen in which disease?

Back 25

Periventricular leukomalacia.