Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/32700
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Type: Journal article
Title: Osler-Weber-Rendu syndrome - Pathological manifestations and autopsy considerations
Author: Byard, R.
Schliebs, J.
Koszyca, B.
Citation: Journal of Forensic Sciences, 2001; 46(3):698-701
Publisher: Amer Soc Testing Materials
Issue Date: 2001
ISSN: 0022-1198
1556-4029
Abstract: An 18-year-old university student with Osler-Weber-Rendu disease collapsed in the bathroom. Attempted resuscitation was unsuccessful. Her past history included recurrent epistaxes, mucosal telangiectasias, intracranial arteriovenous malformations with previous hemorrhage, a single pulmonary arteriovenous malformation, recent onset of grand mal seizures, and depression. There was a positive paternal family history. At autopsy the pulmonary arteriovenous malformation was confirmed. In addition, within the brain there were widespread areas of gliosis with hemosiderin deposition and small vascular malformations. No other significant abnormalities were detected and toxicological screening revealed only moderately elevated levels of carbemazepine. Death was attributed to epilepsy associated with glial scarring from previous microhemorrhages. The detection of vascular malformations in the lung or brain at autopsy should prompt careful examination of all tissues for similar lesions. Given the possibility of Osler-Weber-Rendu disease in such cases, fibroblast cultures should be undertaken to enable molecular studies to proceed. The heritable nature of this disorder necessitates accuracy of diagnosis at autopsy; once the diagnosis is confirmed family screening should be recommended.
Keywords: Lung
Fibroblasts
Humans
Arteriovenous Malformations
Telangiectasia, Hereditary Hemorrhagic
Death, Sudden
Autopsy
Cause of Death
Adolescent
Female
DOI: 10.1520/jfs15025j
Appears in Collections:Aurora harvest
Pathology publications

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