Einstein (São Paulo)
Print version ISSN 1679-4508
SANO, Tatiana Suemi. Krabbe disease: the importance of early diagnosis for prognosis. Einstein (São Paulo) [online]. 2012, vol.10, n.2, pp. 233-235. ISSN 1679-4508. http://dx.doi.org/10.1590/S1679-45082012000200019.
Krabbe disease (globoid cell leukodystrophy) is an inherited recessive autosomal leukodystrophy caused by deficiency of the enzyme galactocerebrosidase. The lack of this enzyme leads to the build-up of galactolipids that will promote the death of oligodendrocytes and the demyelination of the central and peripheral nervous systems. There are two clinical forms: early onset and late onset. This article reports a case of late onset Krabbe disease and discusses the importance of early diagnosis for its prognosis.
Keywords : Leukodystrophy, globoid cell; Galactosylceramidase; Psychosine; Galactolipids; Early diagnosis; Case reports.