Neurology: Case of the Month

Test Yourself — Patient 12

Leukodystrophy

  1. Histopathologic features of Alexander's disease are which of the following:
    • [ A ] Gliosis and subpial Rosenthal fibers
    • [ B ] Intranuclear inclusions
    • [ C ] Periventricular leukomalcia (PVL) and ventriculomegaly
    • [ D ] Cowdry Type B inclusions
  2. Elevated urine N-acetylaspartylase is associated with what disorder?
    • [ A ] Globoid leukodystrophy (Krabbe's disease)
    • [ B ] Glutaric aciduria
    • [ C ] Canavan's disease
    • [ D ] Maple Syrup Urine disease
  3. Clinical features suggesting hydrocephalus in a neonate are which of the following:
    • [ A ] Uncontrollable crying; increased urination; fever
    • [ B ] Tense, bulging anterior fontanel; "setting sun" eyes; large head circumference/rapidly expanding head circumference; altered level of consciousness
    • [ C ] Fever; pallor; sunken anterior fontanel; abdominal distention
    • [ D ] Overriding sutures; lack of social smile or cooing; developmental delay
  4. What findings distinguish the recently described leukodystrophy from other leukodystrophies?
    • [ A ] Worsened clinical picture with onset of seizures in the newborn period
    • [ B ] Isolation of the urine organic acid: ß-hydroxylotzamalarcate
    • [ C ] Milder clinical course, subependymal rosettes on brain biopsy, alopecia
    • [ D ] Milder clinical course, no obvious metabolic or enzymatic abnormalities, the lack of subpial Rosenthal fibers on brain biopsy
  5. What leukodystrophy has both central and peripheral nervous system involvement?
    • [ A ] Krabbe's disease
    • [ B ] Alexander's disease
    • [ C ] Canavan's disease
    • [ D ] Pelizeus-Merzbacher

 

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