Krabbe's disease: globoid cell leukodystrophy

The clinical features of regression in mental and motor development of a 7-month-old child are reported, together with the demonstration of a profound deficiency of galactosylceramide beta-D-galactosidase in a liver biopsy. The diagnosis of Krabbe's disease or globoid cell leukodystrophy (GLD)...

Full description

Bibliographic Details
Main Authors: Jacob, J. C., Kutty, K. M., Islam, M., Dominic, R. G., Dawson, G.
Format: Text
Language:English
Published: 1973
Subjects:
Medical Practice
Newfoundland
Online Access:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1941535
http://www.ncbi.nlm.nih.gov/pubmed/4704908
Description
Summary:The clinical features of regression in mental and motor development of a 7-month-old child are reported, together with the demonstration of a profound deficiency of galactosylceramide beta-D-galactosidase in a liver biopsy. The diagnosis of Krabbe's disease or globoid cell leukodystrophy (GLD) is therefore unequivocally established. The clinical features and morbid anatomical findings permitting the diagnosis of GLD in two of the child's sibs are summarized. This is the first report from Newfoundland of this inborn error of sphingolipid metabolism.

Similar Items