Medicine

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USMLE Step 1

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Lysosomal Storage Diseases

Krabbe Disease

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Krabbe disease, also known as globoid cell leukodystrophy, is an autosomal recessive lysosomal storage disease characterized by a number of neurological signs and symptoms.

It is caused by a mutation in galactocerebrosidase (GALC), which leads to an accumulation of the sphingolipids galactocerebroside and psychosine. Krabbe disease is therefore one of the sphingolipidoses, as the accumulation of psychosine leads to oligodendrocyte destruction and subsequent demyelination. In the brain, this causes white matter degeneration, or leukodystrophy (hence "globoid cell leukodystrophy").

Unsurprisingly, Krabbe disease patients present with a number of neurological findings. This includes peripheral neuropathy, the signs and symptoms of which include hyper- and hypo-reflexia in addition to paresthesias. Similarly, optic nerve involvement can lead to optic atrophy and blindness. Cognitive disability is often present, colloquially referred to as developmental delay. Pathology reveals the finding of giant, multinucleated cells known as globoid cells.

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