| Pathological and neuropathological findings in two males with fragile-X syndrome. | |
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MedLine Citation:
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PMID: 10711653 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The present paper addresses post mortem pathological and neuropathological findings in two males with fragile-X syndrome, aged 67 and 87 years. Both subjects died from sudden, unexpected cardiovascular causes, and both showed abnormalities of the mitral valve, ventricular hypertrophy and cardiomegaly. Both cases demonstrated macrocephaly characteristic of the classical Martin-Bell phenotype in FRAXA. There was increased brain weight in both cases: macroscopically, both cerebral and cerebellar hemispheres appeared normal, but dilated lateral ventricles were seen; and microscopic examination of the brain in case 2 showed normal hexalaminar architecture and no gross neuronal dropout. The hippocampus showed mild CA4 pyramidal cell loss and associated gliosis. The cerebellum showed focal Purkinje cell loss and corresponding Bergmann gliosis. Whilst there is a need to delineate the microscopic features of fragile-X syndrome from those of the ageing process, there is an urgent need for more systematic neuropathological studies of fragile-X syndrome; the increased brain weight and Purkinje cell loss in autism and fragile-X syndrome reopens the debate on these two conditions. The case for further research into the cardiac anomalies in fragile-X syndrome is also strengthened by the findings. Finally, the present report confirms the role of interstitial cell hyperplasia as the major cause of megalo-testes in this condition. |
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Authors:
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M Sabaratnam |
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10771963 - Fragile x syndrome. 17326813 - Language comprehension in boys with fragile x syndrome and boys with down syndrome. 18434223 - Inherited endocrinopathies: an update. |
Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Journal of intellectual disability research : JIDR Volume: 44 ( Pt 1) ISSN: 0964-2633 ISO Abbreviation: J Intellect Disabil Res Publication Date: 2000 Feb |
Date Detail:
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Created Date: 2000-03-29 Completed Date: 2000-03-29 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 9206090 Medline TA: J Intellect Disabil Res Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 81-5 Citation Subset: IM |
Affiliation:
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Houndslow & Spelthorne Community and Mental Health Trust, London, UK. mangasaba@aol.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Aged Aged, 80 and over Brain / pathology*, ultrastructure Cardiomegaly / pathology Cerebellum / pathology Cerebral Ventricles / pathology Death, Sudden, Cardiac / etiology* Fragile X Syndrome / pathology*, physiopathology Gliosis / pathology Humans Hypertrophy, Left Ventricular / pathology Male Mitral Valve Insufficiency / pathology Purkinje Cells / pathology |
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