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)...

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Bibliographic Details
Published in:Canadian Medical Association journal 1973-06, Vol.108 (11), p.1398-1400
Main Authors: Jacob, J C, Kutty, K M, Islam, M, Dominic, R G, Dawson, G
Format: Article
Language:English
Subjects:
Diffuse Cerebral Sclerosis of Schilder - diagnosis
Diffuse Cerebral Sclerosis of Schilder - genetics
Diffuse Cerebral Sclerosis of Schilder - metabolism
Diffuse Cerebral Sclerosis of Schilder - pathology
Female
Galactosidases - analysis
Humans
Infant
Liver - enzymology
Male
Medical Practice
Radionuclide Imaging
Sphingolipids - metabolism
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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.
ISSN:0008-4409