Lecture 13- CNS Malformations

Question 1

Anatomy Review

Answer 1

Prosen – Telen, Dien

Mesen – Mesen

Rhomben – Meten, Myelen

Question 2

Defects of Neural Tube Closure

• two defects
  a/w with deficient nutrient
  what teratogenic drug?
  Early detection by what screen?

Answer 2

Anencephaly

Spina Bifida

MSAFP

Folic acid supplments

Valproic acid

Question 3

Spina Bifida is a/w what other malforaiton?

Answer 3

90% a/w chiari II malforation

Question 4

Encephalocele

what is it?
what is it not assocaited with?
where does it typically occur?

Answer 4

herniation of intracranial contents through skin covered neural tube defect

nno a/w Folate

Occurs in occipital

Question 5

Holoprosencephaly

what is it?
what can a mild form look like?
what does a severe form look lke
a/w white what toxins or materal disease?
a/w what familail mutations?

Answer 5

failure of forebrain cleavage

mild – cleft lip/ palate, central incisor

Severe – cylopia, synaopthalmia, proboscis
Alobar HPE – no differention into cerebral hemispheres

Alcohol, Retinoic Acid, Maternal DM

SHH mutatio

Question 6

Lissencephaly

what is it?
what gene?
what 2 syndromes is it associated with?

Answer 6

Smooth brain; absence of gyri

Gene on 17p

Miller Dieker and Walker Warburg

Question 7

heterotopia – what is seen on imaging or tissue?

Answer 7

Double Banding

nodules in the ventricles

Question 8

Porencephaly

what are they and what are they the result of?

Answer 8

cystic destruction of brain parenchyma resulting from brain ischemia due to antenatal hypotension, vascular dysgenesis, vascular accidents or infection

Question 9

Hydranencephaly

what is it? how does it occur?

Answer 9

transient fetal hypotension or stroke like episodes

		§ Infarct during development leading to destruction of brain parenchyma 
		§ Post natal can be lethal

Question 10

Schizencephaly what is seen on imaging?

Answer 10

§ Full thickness cleft in cerebral hemisphere on imaging

Question 11

Chiar I , II, III malformations

differences between each
which one is “arnold chiari malformation?”
which is assocaited with spina bifida?

Answer 11

Chiari I – cerebellar tonsils displaced below level of foramen magnum

Chiari II – downward displacement of cerebellar tonsils & vermis. Aka Arnold Chiari; A/w spina bifida

Chiari III – Vague/Rare; displacement of cerebellar structures & brainstem

Question 12

Dandy Walker Malformation
what is it?
what is the most distinct feature?

Answer 12

ageneiss of the cerbellar vermis
cystic enlargement of the 4th ventricle
associated with hydrocephalus

Question 13

what karyotypes can be associated with many of the malformations of this lecture?

Answer 13

Trisomy 13, 18

Question 14

hydrocephalus

congential vs acquired

Answer 14

• Congenital – aqueduct stenosis, intrauterine infection, malformations (dandy walker)
  
  • Acquired – meningitis, premature with ventricular hemorrhage

Question 15

common cause of cerebral palsy?

Answer 15

periventricular leukomalacia