[Ataxia telangiectasia. Description of a case with multiple cerebral hemorrhages and liver cirrhosis].
Clinical history and morbid anatomy findings of a new case of ataxia-telangiectasia are reported. A 26 years old man, with overt signs of the disease since the age of 8, died for decompensated cirrhosis; in the last year he suffered for cerebral haemorrhage; post-mortem examination showed venous angiectasias in cerebral white matter that caused two macroscopical areas of haemorrhagic infarction and multiple pin-pointed haemorrhages. We suggest that longer survival of patients with A.T., due to better management of infectious complications, permits the appearance of vascular abnormality not only in skin and mucosae, but also in deep organs, generally protected from environmental damages.
D000328:Adult; D001260:Ataxia Telangiectasia / Q000150:complications*; D001921:Brain / Q000473:pathology; D002543:Cerebral Hemorrhage / Q000209:etiology* / Q000473:pathology; D006514:Hepatitis B Surface Antigens / Q000276:immunology; D006801:Humans; D008103:Liver Cirrhosis / Q000150:complications* / Q000276:immunology / Q000473:pathology; D008297:Male
D006514:Hepatitis B Surface Antigens
Atassia-teleangiectasia. Descrizione di un caso con emorragie cerebrali multiple e cirrosi epatica.