Krabbe's disease--globoid cell leukodystrophy
Andersen, J.B.
Ugeskrift for Laeger 159(7): 927-932
1997
ISSN/ISBN: 0041-5782 PMID: 9054082 Document Number: 479850
Krabbe's disease, globoid cell leukodystrophy, is a rare autosomal recessive demyelinating neurodegenerative disease caused by reduced activity of the lysosomal enzyme galactosylceramide beta-galactosidase which is involved in myelin metabolism. More than 90% of cases are represented by the classical infantile form characterized by early onset, rapid progression and a relatively uniform clinical picture. In Denmark during 1979-1995 there were 14 enzymatically verified cases of this form (incidence 1:67,000) and two cases of the late onset form, which has a slower progression and a more varied clinical picture. A case of the late onset form is described. There is no cure for Krabbe's disease, but an early diagnosis is of great importance in order to prevent new cases by prenatal diagnosis in high-risk families.