10.2 CNS Malformations

Question 1

anencephaly and myelomeningocele due to failure of

Answer 1

neural tube closure

Question 2

increased alpha fetoprotein (AFP)

Answer 2

anencephaly

Question 3

due to folate deficiency

Answer 3

anencephaly

Question 4

anencephaly caused by deficiency in

Answer 4

folate

Question 5

area cerebrovasculosa

Answer 5

remnant of brain tissue seen in anencephaly

Question 6

absent descending fiber tracts seen in

Answer 6

anencephaly

Question 7

motor and sensory deficits in lower extremities, disturbance of bowel and bladder

Answer 7

myelomeningocele

Question 8

associated with chiari II malformation

Answer 8

myelomeningocele

Question 9

myelomeningocele assoc with

Answer 9

chiari II malformation

Question 10

Meckel Gruber syndrome

Answer 10

occipital encephalocele

polydactyly

polycystic kidneys

hepatic fibrosis with bile duct proliferation

Question 11

failure in normal cell migration

Answer 11

type I lissencephaly

Question 12

over migration of neurons

Answer 12

type II lissencephaly

Question 13

associated with metabolic disorders like Zellweger syndrome

Answer 13

polymicrogyria

Question 14

associated with intrauterine infections (CMV)

Answer 14

polymicrogyria

Question 15

thick cerebral cortex with 4 layers

Answer 15

type I lissencephaly

Question 16

cerebellar and ocular abnormalities, congenital muscular dystrophy

Answer 16

type II lissencephaly

Question 17

defect in O-mannosylation

Answer 17

type II lissencephaly

Question 18

type of heterotopia that is surgically curable

Answer 18

cortical dysplasia

Question 19

masses of gray matter between the ventricular surface and underlying cortex

Answer 19

subcortical band heterotopia

Question 20

nodular masses of gray matter near the ventricular surface

Answer 20

periventricular heterotopia

Question 21

glioneural tissue within the leptomeninges (gray matter in meninges)

Answer 21

leptomeningeal heterotpia

Question 22

associated with maternal diabetes and trisomy 13

Answer 22

holoprosencephaly

Question 23

mutated SHH gene

Answer 23

holoprosencephaly

Question 24

single telencephalic ventricle

Answer 24

holoprosencephaly

Question 25

fused basal ganglia and thalami

Answer 25

holoprosencephaly

Question 26

dilated ventricles with batwing contour

Answer 26

agenesis of corpus collosum

Question 27

displaced cerebellar tonsils

Answer 27

chiari I malformation

Question 28

displaced cerebellar vermis

Answer 28

chiari II malformation

Question 29

displaced cerebellum into a cervical or low occipital encephalocele

Answer 29

chiari III malformation

Question 30

absent cerebellum

Answer 30

chiari IV malformation

Question 31

maternal vitamin A deficiency

Answer 31

chiari II

Question 32

kinked / s shaped lower medulla

Answer 32

chiari II

Question 33

fusion/beaking of inferior tectum

Answer 33

chiari II

Question 34

cystic dilatation of 4th ventricle

Answer 34

Dandy Walker malformation

Question 35

enlarged posterior fossa

Answer 35

Dandy Walker malformation

Question 36

hypoplasia to aplasia of cerebellar vermis

Answer 36

Dandy Walker malformation

Question 37

isotretinoin use in pregnancy

Answer 37

Dandy Walker malformation

Question 38

dilated central canal lined by ventricle

Answer 38

hydromyelia

Question 39

dilated spinal cord not lined by ventricle

Answer 39

syringomyelia

Question 40

splitting of spinal cord

Answer 40

diplomyelia and diastomatomyelia

Question 41

hemorrhage of prematurity near the terminal vein

Answer 41

germinal matrix hemorrhage

Question 42

germinal matrix hemorrhage often coexists with

Answer 42

periventricular leukomalacia

Question 43

yellowish lesions in lateral ventricles, coag necrosis followed by macrophages and cavitation, calcified swollen axons

Answer 43

periventricular leukomalacia

Question 44

hypertrophic astrocytes and diffuse abnormality of white matter (no myelin)

Answer 44

perinatal telencephalic leukoencephalopathy

Question 45

small mushroom shaped gyri

Answer 45

ulegyria

Question 46

abnormally myelinated scars in basal ganglia / thalamus

Answer 46

status marmoratus

Question 47

neuronal necrosis in ventral pons and subiculum (part of temporal lobe adj to hippo)

Answer 47

pontosubicular necrosis

Question 48

caused by hemolytic anemias, is pathologic b/c babies can't conjugate bilrubin

Answer 48

kernicterus

Question 49

choreoathetosis, ataxia, mental deficiency from something in childhood

Answer 49

kernicterus

Question 50

non progressive neurologic motor deficit from prenatal and perinatal periods

Answer 50

cerebral palsy