Globoid cell leukodystrophy: the first case with antemortem diagnosis in Japan

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.