Document Detail

Krabbe's leukodystrophy without globoid cells.
MedLine Citation:
PMID:  988509     Owner:  NLM     Status:  MEDLINE    
Krabbe's infantile cerebral sclerosis with a prolonged course was present in a boy who became increasingly hypertonic during infancy and had an increased protein level in the spinal fluid. At 4 years he showed significant growth failure, profound mental retardation, spastic quadriplegia, bilateral optic atrophy, and depressed tendon reflexes. Conduction velocity in motor fibers of the median nerve had become progressively impaired. Autopsy at 5 years 10 months showed severe leukodystrophy with demyelination and gliosis. No stored breakdown products or globoid cells were seen in the brain. Galactosyl ceramide beta-galactosidase was virtually absent, and hardly any myelin was demonstrable on chemical and electron microscopic studies. The presence of globoid cells may not be essential for the pathologic diagnosis of Krabbe's leukodystrophy in the presence of appropriate enzyme deficiency.
H G Dunn; C L Dolman; D F Farrell; B Tischler; C Hasinoff; L I Woolf
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Neurology     Volume:  26     ISSN:  0028-3878     ISO Abbreviation:  Neurology     Publication Date:  1976 Nov 
Date Detail:
Created Date:  1976-12-30     Completed Date:  1976-12-30     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1035-41     Citation Subset:  IM    
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MeSH Terms
Brain / pathology*
Cerebellar Cortex / pathology
Child, Preschool
Leukodystrophy, Globoid Cell / enzymology,  pathology*,  physiopathology
Myelin Sheath / analysis,  ultrastructure
Neural Conduction

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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