Demyelinating Diseases and Malformations Flashcards
M.S patho, demo, symptoms, radio
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
Diagnosis of MS
Multiple lesions in time and space
Oligoclonal bands in CSF
Patterns of MS
Relapsing-remitting (most)
Benign relapsing remitting
Primary progressive
Txs for MS
Avonex (beta 1-a), betaseron (beta 1-b), extavia (beta-1b_, rebig (beta-1a)
MS plaques
Loss of myelin…see light areas in white matter
See perivasular lymphocytes on close image
Tumefactive MS
Resembles a brain tumor both radiologically and histologically…tx with antiinflammatory
NMO
Hits optic nerves and spinal cord more
Black>white
IgG against aquaporin 4
ADEM
Viral dz, partial recovery, then ADEM
Kids and young adults
Rarely fatal
CPM
Too rapid correction of hyponatremia
Reversible, locked-in syndrome, death
Neural tube
Higher risk of malformation is folate (Pax3 gene) def or female fetus
Spina bifida
Occulta - defect in arch
Meningocele - meningeal protrusion
Myelomeningocele - meninges and spinal cord
Rachischisis
Exposed spinal cord
Posterior doesn’t close
Oftne with anencephaly
anencephaly
Absence of brain, skull, scalpe
Rostral neural tube doesn’t close
Perventricular nodular heterotopia
Grey matter undershooting where it should be
Leptomeningeal glioneuronal heterotopia
Grey matter overshooting
Lissencephaly
Smooth brain
Agyria - severe
Pchygyria - less severe
Polymicrogyria
Disruption in latter stages
Too man gyri
Regional or widesrpead
Holoprosencephaly
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
Dandy-Walker
ABsence of cerbeellar vermis
Dilated 4th ventricles
Enlarged posterior fossa
Hindrbrain development arrest
Sometimes with hydrocephalus
Chiaria malformatios
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)
General feautres of neuronal progenitor migration
Progenitors arise in periventricular germinal maitrix
Migrate up to cortex using radial glial cells
Cajal-Retzius cells prvent from going to far
