Document Detail

Type 1 GM1 gangliosidosis with basal ganglia calcification: a case report.
MedLine Citation:
PMID:  10063711     Owner:  NLM     Status:  MEDLINE    
This report concerns a 10-month-old boy, admitted to the Veterans General Hospital-Kaohsiung with generalized tonic convulsion and aspiration pneumonia. He was found to have had developmental regression, progressive hypotonia and hepatosplenomegaly since four months of age. Physical examination revealed a large head circumference (97th percentile), frontal bossing, depressed nasal bridge, hepatosplenomegaly, broad hands and short fingers. Neurologic examination showed poor control of eye movement, profound hypotonia, muscle weakness, brisk deep tendon reflexes and Babinski's sign. Hypoplasia of the vertebral bodies with anterior beaking, wedge-shaped metacarpals, spatulated ribs and a J-shaped sella turcica were displayed on bone radiographs. Cranial computerized tomography scans showed diffuse brain atrophy, dilated ventricles and calcification of the bilateral basal ganglia. Vacuolated lymphocytes were noted in a peripheral blood smear. Type 1 GM1 gangliosidosis was diagnosed based on a deficiency of beta-galactosidase activity. To our knowledge, basal ganglia calcification in type 1 GM1 gangliosidosis has never been reported in the literature. We suggest that type 1 GM1 gangliosidosis be considered in the differential diagnosis of patients with an early onset of neurologic decline, organomegaly and basal ganglia calcification.
C C Chen; P C Chiu; K S Shieh
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Zhonghua yi xue za zhi = Chinese medical journal; Free China ed     Volume:  62     ISSN:  0578-1337     ISO Abbreviation:  Zhonghua Yi Xue Za Zhi (Taipei)     Publication Date:  1999 Jan 
Date Detail:
Created Date:  1999-03-16     Completed Date:  1999-03-16     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0005327     Medline TA:  Zhonghua Yi Xue Za Zhi (Taipei)     Country:  TAIWAN    
Other Details:
Languages:  eng     Pagination:  40-5     Citation Subset:  IM    
Department of Pediatrics, Veterans General Hospital-Kaohsiung, Taiwan, ROC.
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MeSH Terms
Basal Ganglia Diseases / etiology*
Calcinosis / etiology*
Gangliosidosis, GM1 / complications,  diagnosis*

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