Krabbe disease: the importance of early diagnosis for prognosis

Abstract

Krabbe disease (globoid cell leukodystrophy) is an inherited recessiveautosomal leukodystrophy caused by deficiency of the enzymegalactocerebrosidase. The lack of this enzyme leads to the build-up ofgalactolipids that will promote the death of oligodendrocytes and thedemyelination of the central and peripheral nervous systems. Thereare two clinical forms: early onset and late onset. This article reportsa case of late onset Krabbe disease and discusses the importance ofearly diagnosis for its prognosis.

Keywords

• Leukodystrophy
• globoid cell
• Galactosylceramidase
• Psychosine
• Galactolipids
• Early diagnosis
• Case reports