Document Detail


Thalamic and basal ganglia hyperdensities--a CT marker for globoid cell leukodystrophy?
MedLine Citation:
PMID:  1565214     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Globoid cell leukodystrophy (Krabbe's disease) is a rare autosomal recessive lipidosis, with signs restricted to the nervous system, and is caused by deficiency of the lysosomal hydrolase galactocerebroside beta-galactosidase (galactocerebrosidase). In recent years there have been reports of neurological variants, where age of onset and manifestations differed from the classical form. In other cases, specific CT findings, mainly hyperdensities, have been seen. We report a case of late-infantile Krabbe's disease where thalamic and basal ganglia hyperdensities have been seen on CT scan. We also stress that clinicians should be aware of the possibility of Krabbe's disease in infants who display progressive encephalopathy and these CT findings.
Authors:
L B Jardim; R Giugliani; A H Fensom
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neuropediatrics     Volume:  23     ISSN:  0174-304X     ISO Abbreviation:  Neuropediatrics     Publication Date:  1992 Feb 
Date Detail:
Created Date:  1992-05-21     Completed Date:  1992-05-21     Revised Date:  2008-01-16    
Medline Journal Info:
Nlm Unique ID:  8101187     Medline TA:  Neuropediatrics     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  30-1     Citation Subset:  IM    
Affiliation:
Medical Genetics Unit, Clinical Hospital of Porto Alegre, RS, Brazil.
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MeSH Terms
Descriptor/Qualifier:
Basal Ganglia / radiography*
Chromosome Aberrations / genetics
Chromosome Disorders
Female
Galactosylceramidase / blood
Genes, Recessive / genetics
Humans
Infant
Leukocytes / enzymology
Leukodystrophy, Globoid Cell / genetics,  radiography*
Thalamus / radiography*
Tomography, X-Ray Computed*
Chemical
Reg. No./Substance:
EC 3.2.1.46/Galactosylceramidase

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


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