6.6 White Matter Myelin Disorders

Question 1

• acquired chronic inflammatory disorder of the CNS with distinct episodes of neurologic deficits, separated in time, attributable to white matter lesions that are separated in space
• cerebral atrophy with chronic disease
• atrophy of optic nerves/chiasm, superficial plaques in pons and spinal cord

Answer 1

multiple sclerosis

Question 2

• CD4 T cells react against myelin and secrete cytokines (IL2, IL7) that activate macrophages
• antibodies present
• association with HLA-DR15

Answer 2

multiple sclerosis

Question 3

CSF: mild elevation in protein, lymphocytes, and oligoclonal bands
-periventricular T2 hyperintense lesions on MRI

Answer 3

multiple sclerosis

Question 4

• optic neuritis + spinal cord disease
• aquaporin 4 antibody, damages astrocytic water channel
• NMO-IgG specific biomarker autoantibody

Answer 4

neuromyelitis optica

Question 5

• monophasic illness in children and young adults following viral infection or immunization
• affects brain and spinal cord, headache, lethargy, coma
• numerous and small T2 hyperintense white matter lesions

Answer 5

acute disseminated encephalomyelitis

Question 6

• monophasic and rapidly progressing illness, following a recent upper respiratory infection, immunization, or drug reaction
• fever, neck stiffness, seizures, in children and young adults
• possible fulminant form of ADEM, get cerebral swelling, lesions larger than ADEM, hihg mortality rate

Answer 6

acute hemorrhagic encephalomyelitis

Question 7

• loss of myelin in basis pontis and portions of pontine tegmentum, 2-6 days after rapid correction hyponatremia
• rapidly evolving quadriplegia, locked in syndrome, fatality

Answer 7

central pontine myelinolysis

Question 8

infection by JC virus, preferentially infects oligodendrocytes, due to reactivation of virus in setting of immunosuppression

Answer 8

progressive multifocal leukoencephalopathy

Question 9

viral inclusions of oligodendrocytes, progressive visual, motor, dementia sensory symptoms, short course leading to death

Answer 9

progressive multifocal leukoencephalopathy

Question 10

X linked recessive disease associated with mutations in ABCD1 transporter, leads to inability to catabolize VLCFA

Answer 10

adrenoleukodystrophy

Question 11

presents in young boys with progressive intellectual and behavioral problems, adrenal insufficiency, lipid antigen and myelin destruction

Answer 11

adrenoleukodystrophy

Question 12

progressive AD disorder due to mutations in GFAP, increase in VLCFA, disorder of astrocytes, Rosenthal fibers, young children with seizrues, megalencephaly, developmental delay

Answer 12

Alexander disease