| Cerebrotendinous xanthomatosis. | |
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MedLine Citation:
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PMID: 20454938 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe two adolescent Indian siblings with cerebrotendinous xanthomatosis with cognitive impairment, progressive neurological deterioration, juvenile cataracts and chronic diarrhea. Both patients had bilateral Achilles tendon xanthomata. Rapid progression of disease was an unusual finding in these cases. Magnetic resonance imaging showed characteristic signal alterations in cerebellar hemispheres, brainstem and posterior cerebral white matter. |
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Authors:
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Mahesh Kamate; Vivek Chetal; Virupaxi Hattiholi |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-05-07 |
Journal Detail:
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Title: Indian journal of pediatrics Volume: 77 ISSN: 0973-7693 ISO Abbreviation: Indian J Pediatr Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-06-28 Completed Date: 2010-10-15 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0417442 Medline TA: Indian J Pediatr Country: India |
Other Details:
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Languages: eng Pagination: 697-8 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, KLE University's JN Medical College, Belgaum, India. drmaheshkamate@gmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Achilles Tendon
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pathology Adolescent Brain / pathology Brain Stem / pathology Cataract / pathology Cerebellum / pathology Cognition Disorders / etiology Diarrhea / etiology Disease Progression Female Humans Nervous System Diseases / etiology Siblings Xanthomatosis / pathology Xanthomatosis, Cerebrotendinous / complications, pathology* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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