kiranmayi
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An eight-month-old infant is brought to the clinic due to failure to thrive. The parents also complain of a complete lack of social activity, paralysis, and seizures. A few months later, the child dies. The autopsy report notes accumulation of galactocerebroside in the white matter of the brain, lack of myelination, and inclusion bodies in the Schwann cells. Which metabolic defect is most likely?
A. Fabry's disease
B. Gaucher's disease
C. Krabbe's disease
D. Metachromatic leukodystrophy
E. Niemann-Pick disease
F. Tay-Sachs disease
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| Bela
Forum Guru
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ANS: Krabbe's
A. Fabry's disease blocks Ceramide Trihexoside -->Lactosyl Cerebroside
B. Gaucher's disease blocks Glucocerebroside-->Cerebroside
C. Krabbe's disease
D. Metachromatic leukodystrophy blocks Sulfatides -->Galactocerebroside. Next step involves Krabbe's disease.
E. Niemann-Pick disease blocks Sphingomyelin -->Cerebroside
F. Tay-Sachs disease blocks GM2-->GM3
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La vita e bella!
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| usmleasr
Forum Guru
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F? :roll:
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| asmi
Forum Hero
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Galactocerebrosidase accumulation ........krabbe's ("multinucleated globoid cells")
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| kiranmayi
Forum Guru
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Posts: 407
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correct
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