title: Globoid cell leukodystrophy: the first case with antemortem diagnosis in Japan.
abstract: A Japanese boy was diagnosed as globoid cell leukodystrophy on the basis of a marked decrease in the galactocerebroside beta-galactosidase activity in the leukocytes and the serum when one year and two months old. At autopsy when 1 year and 10 months, microscopic findings were characteristic for those of globoid cell leukodystrophy. Galactocerebroside beta-galactosidase activities of leukocytes and sera of his father and mother were found to be half those of control subjects, thus it suggested the parents being heterozygotes of the disease.
mesh_terms: D001344:Autopsy; D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000473:pathology; D003560:Cysts / Q000473:pathology; D005625:Frontal Lobe / Q000473:pathology; D005696:Galactosidases / Q000097:blood*; D005698:Galactosylceramidase / Q000097:blood*; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000201:enzymology; D007965:Leukodystrophy, Globoid Cell / Q000097:blood / Q000201:enzymology* / Q000473:pathology; D008297:Male
chemical_list: D005696:Galactosidases; D005698:Galactosylceramidase