Neurology: Case of the Month

Test Yourself — Patient 37

Metachromatic Leukodystrophy

1. All of the following diseases are transmitted via autosomal recessive inheritance, EXCEPT:
   • [ A ] Metachromatic leukodystrophy
   • [ B ] Globoid cell leukodystrophy (Krabbe disease)
   • [ C ] Adrenoleukodystrophy
   • [ D ] Aspartoacylase deficiency (Canavan disease)
2. Which ONE of the following diseases DOES NOT affect the peripheral nervous system?
   • [ A ] Metachromatic leukodystrophy
   • [ B ] Globoid cell leukodystrophy (Krabbe disease)
   • [ C ] Canavan disease
   • [ D ] Cockayne disease
3. Which pairing of disease to the associated pathologic feature is NOT CORRECT?
   • [ A ] Krabbe disease - globoid cells
   • [ B ] Canavan disease - Rosenthal fibers
   • [ C ] MLD - demyelination and deposits of granules
   • [ D ] Mitochondrial myopathies - ragged red fibers
4. Which of the following are NOT available treatment options for patient affected with MDL?
   • [ A ] Antiepileptics
   • [ B ] Enzyme replacement therapy
   • [ C ] Bone marrow transplantation
   • [ D ] Antispasticity agents
5. Which of the following pairings of disease with the associated enzyme deficiency is NOT CORRECT?
   • [ A ] Krabbe disease - galactosylceramide beta-galactosidase
   • [ B ] Adrenoleukodystrophy - peroxisomal acyl coenzyme A synthetase
   • [ C ] Metachromatic leukodystrophy - arylsulfatase A
   • [ D ] Alexander disease - aspartoacylase
   • [ E ] Tay-Sachs disease - hexosaminidase A

 

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