| Type 1 GM1 gangliosidosis with basal ganglia calcification: a case report. | |
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MedLine Citation:
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PMID: 10063711 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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C C Chen; P C Chiu; K S Shieh |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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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:
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Created Date: 1999-03-16 Completed Date: 1999-03-16 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0005327 Medline TA: Zhonghua Yi Xue Za Zhi (Taipei) Country: TAIWAN |
Other Details:
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Languages: eng Pagination: 40-5 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Veterans General Hospital-Kaohsiung, Taiwan, ROC. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Basal Ganglia Diseases
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etiology* Calcinosis / etiology* Gangliosidosis, GM1 / complications, diagnosis* Humans Infant Male |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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