Osler-Weber-Rendu syndrome--pathological manifestations and autopsy considerations.

摘要: 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 previous hemorrhage, a single pulmonary malformation, recent onset of grand mal seizures, and depression. There positive paternal family history. At autopsy malformation confirmed. In addition, within brain there were widespread areas gliosis hemosiderin deposition small vascular malformations. No other significant abnormalities detected toxicological screening revealed only moderately elevated levels carbemazepine. Death attributed to epilepsy associated glial scarring from microhemorrhages. The detection lung or at should prompt careful examination all tissues for similar lesions. Given possibility such cases, fibroblast cultures be undertaken enable molecular studies proceed. heritable nature this disorder necessitates accuracy diagnosis autopsy; once is confirmed recommended.