Krabbe disease: the importance of early diagnosis for prognosis.
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.
Resident of Pediatrics, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.
Tatiana Suemi
TS
Sano
D002675:Child, Preschool; D042241:Early Diagnosis; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000601:surgery; D011379:Prognosis