Demyelinating Dz JB Flashcards
In the CNS, compacted myelin is produce by… and contains what two proteins?
- oligodendrocytes
- Proteolipid protein (PLP)
- Myelin Basic Protein (MBP)
In the PNS, myelin is produced by… and is made of what two proteins?
- Schwann Cells
- Myelin protein zero (MPZ)
- Peripheral myelin protein -22 (PMP-22)
An arrest in myelin production would be considered…
Examples of diseases like this would be…
hypomyelinating
rare peds dz - Pelizaeus Merzbacher, vanishing white matter dz
Diseases that cause abnormal myelin production are considered….
Examples include
Dysmyelinating
- adenoleukodystrophy
- Alexander’s Disease
- Metachromatic leukodystrophy
- Krabbe’s
- Canavan
- Phenylketonuria
Disease that cause destruction of existing myelin are considered…
Demyelinating
- MS
- Acute disseminated encephalomyelitis (ADEM)
- AIDP/GBS
- CIDP
- Charcot-Marie-Tooth
Alexander’s Disease has features of a GFAP mutation and Rosenthal fibers. An infant might present with megalencephaly. What type of disease is it, and where does it localize to?
Dysmyelinating Disease
Frontal Leukodystrophy
A lysosomal frontal leukodystrophy is…
This is characterized by a deficiency in what? This deficiency causes accumulation of…. and ultimately defective CNS and PNS myelination (dysmyelinating).
What are unique ssx for an adult?
Metachromatic leukodystrophy
arylsulfatase A deficiency causing cerebroside sulfate accumulation
adult form is dementia with peripheral neuropathy and cholecystitis
A galactocerebrosidase beta-galatosidase deficiency could lead to…
with ssx of…
Krabbe - posterior leukodystrophy
optic atrophy/blindness, sz, psychomotor retardation, peripheral neuropathy; infantile, juvenile and adult forms
kids most often
High plasma VLCFAs and a childhood onset behavior abnormalities and adrenal insufficiency is making me think…
adrenoleukodystrophy - posterior leukodystrophy
dysmyelinating disease
An autoimmune disorder with autoreactive lymphocytes is…
The primary phases of this dz are…
MS
- inflammation
- demyelination/axon loss of gray and white matter
- gliosis/neurodegeneration of brain and spinal cord (Disability)
Location wise, who has an increased risk of getting MS?
increased distance from the equator, decreased sun exposure
85% of people with MS present with…
clinically isolated syndrome - solitatry demyelinating event with ssx lasting more than 24 hours
Optic neuritis is a common presentation of MS. This pt will be… and have ssx like…
- female 30-40
- rapid visual loss over hours to days
- pain on EOM movement
- relative afferent pupillary defect on exam
- fundus is often normal
What are some factors a/w aggressive MS?
- male
- older than 40
- AA
- motor involvement
- cerebellar involvement
- poor recovery from relapses
- low vit D
- smoker
Diagnosis of MS must satisfy the McDonald Criteria, which includes…
- Exclusion of other dx
- optic neuritis from infection or compressive
- transverse myelitis - spinal dural AV fistula, B12/Cu deficiency, tumor or parneoplastic syndrome, Alexander’s Dz
- MRI lesion: tumor, stroke, vascular malformation
- Time and Space Criteria
- dissemination in time: more than 1 attack
- dissemination in space: at least one lesion in two of 4 areas
- juxtacortical, cortical, periventricular, posterior fossa/SC
What am I looking at?
Dawson’s fingers, characteristic of MS
What are some ways to tx RRMS?
- beta interferons
- fingolimoid
- dimethyl fumerate
- natalizumab
- rituzimab
- Ocrelizumab gets both PPMS and RRMS
What is a risk of a few tx of MS?
risk PML caused by JC virus
What qualifies as an MS flare/lapse?
What is the tx for this?
lapse lasts >24 hours and cannot be attributed to infection or heat exposure
methylprednisolone 1g IV per day for 3 days followed by prednisone taper
ACTH for pt that cannot tolerate steroids
plasma exchange is another option
Neuromyelitis Optic specturum disorders are caused by autoimmune factors like..
antibodies to aquaporin-4
a water channel on astrocytic foot processes, exposed in optic nerves, brain and SC
What are clinical features of neuromyelitis optica?
- F>M 9:1
- optic neuritis, usually bilateral and severe
- longitudinally extensive transverse myelitis (3 vertebral segments involved), involves central cord, can be complete; v painful
- area postrema syndrome
- hiccups, nausea, vomiting
How do you tx neuromyelitis Optica?
rituximab for maintenance, IVMP or plasma exchange for acute exacerbations
contrasting MS, NMO lesions are often..
large and follow ependymal lining
Clinical presenation of sensory loss, pain, weakness, ataxia, bowel or bladder dysfunction
with ssx progressing overing hours, days, and weeks - peaking at 4 weeks if left untx’d
consider dx of …
transverse myelitis
