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Lysosomal Storage Diseases

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Krabbe Disease

20681
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Summary

Krabbe disease, also known as globoid cell leukodystrophy, is an autosomal recessive lysosomal storage disease characterized by primarily neurological signs and symptoms. It is caused by a mutation in galactocerebrosidase, 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.

Key Points

  • Krabbe Disease (globoid cell leukodystrophy)
    • Autosomal recessive inheritance
    • Deficient galactocerebrosidase
      • Accumulation of galactocerebroside and psychosine
        • Accumulation in myelin sheath cells leads to demyelination
    • Presents in infants with:
      • central/peripheral neuropathy
        • Hyperactive reflexes, muscle tone abnormalities
        • Optic nerve may be involved, leading to optic atrophy
      • developmental delay
      • irritability
    • Neural biopsy reveals globoid cells
      • giant, multinucleated cells with large lysosomes containing tubular inclusions


Find Krabbe Disease and more Lysosomal Storage Diseases among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.