Demyelinating Diseases and Malformations

Question 1

M.S patho, demo, symptoms, radio

Answer 1

AI against myelin basic protein…demyelinating…short circuting….can lead to axon breakage
F:M 2>1
W:B 2>1

Optic neuritis, transverse myelitis, ataxia and vertigo

Multiple white matter lesions changing over time

Question 2

Diagnosis of MS

Answer 2

Multiple lesions in time and space

Oligoclonal bands in CSF

Question 3

Patterns of MS

Answer 3

Relapsing-remitting (most)
Benign relapsing remitting
Primary progressive

Question 4

Txs for MS

Answer 4

Avonex (beta 1-a), betaseron (beta 1-b), extavia (beta-1b_, rebig (beta-1a)

Question 5

MS plaques

Answer 5

Loss of myelin…see light areas in white matter

See perivasular lymphocytes on close image

Question 6

Tumefactive MS

Answer 6

Resembles a brain tumor both radiologically and histologically…tx with antiinflammatory

Question 7

NMO

Answer 7

Hits optic nerves and spinal cord more
Black>white
IgG against aquaporin 4

Question 8

ADEM

Answer 8

Viral dz, partial recovery, then ADEM

Kids and young adults

Rarely fatal

Question 9

CPM

Answer 9

Too rapid correction of hyponatremia

Reversible, locked-in syndrome, death

Question 10

Neural tube

Answer 10

Higher risk of malformation is folate (Pax3 gene) def or female fetus

Question 11

Spina bifida

Answer 11

Occulta - defect in arch
Meningocele - meningeal protrusion
Myelomeningocele - meninges and spinal cord

Question 12

Rachischisis

Answer 12

Exposed spinal cord
Posterior doesn’t close
Oftne with anencephaly

Question 13

anencephaly

Answer 13

Absence of brain, skull, scalpe

Rostral neural tube doesn’t close

Question 14

Perventricular nodular heterotopia

Answer 14

Grey matter undershooting where it should be

Question 15

Leptomeningeal glioneuronal heterotopia

Answer 15

Grey matter overshooting

Question 16

Lissencephaly

Answer 16

Smooth brain
Agyria - severe
Pchygyria - less severe

Question 17

Polymicrogyria

Answer 17

Disruption in latter stages
Too man gyri
Regional or widesrpead

Question 18

Holoprosencephaly

Answer 18

Sonice hedgehog pathway deficit
Failure ot split into 2 hemispheres
Alobar worst
Semilobar
Lobar may be normal
See antibicipation
FAS, maternal diabetes, trisomies 13,18

Question 19

Dandy-Walker

Answer 19

ABsence of cerbeellar vermis
Dilated 4th ventricles
Enlarged posterior fossa

Hindrbrain development arrest

Sometimes with hydrocephalus

Question 20

Chiaria malformatios

Answer 20

Cerebellar herniation throgh froamen magnum

1 - herniation of tonsil (asymptomatic, ataxia, hydrocephalus, SIDS)

2 - herniation of vermis and brainstem displacement (with lumbosacral myelomeningocele and 80% hydrocephalus)

3) - cerebello-encephalocele (gurantreed other abnormalities)

Question 21

General feautres of neuronal progenitor migration

Answer 21

Progenitors arise in periventricular germinal maitrix
Migrate up to cortex using radial glial cells
Cajal-Retzius cells prvent from going to far