Subarachnoid hemorrhage due to aneurysm rupture in a young woman with Alagille syndrome - A rare cause of sudden death

摘要

The Alagille syndrome (AGS) or arteriohepatic dysplasia is a rare, autosomal dominant inherited disease with a prevalence of approximately 1:100,000. AGS was first described in 1969 and affects liver, heart, arterial blood vessels, skeleton and the eyes. The expression of AGS is variable. In severe cases a liver transplantation is required. Presented is the case of a 25-year-old woman with AGS. At the age of 7 and 8 years she had liver transplantations. Other typical findings associated with Alagille syndrome (e.g. pulmonary or renal anomalies) were also present. The young woman apparently died suddenly and unexpectedly in a good health condition despite regular medical treatment. Cause of death was a subarachnoid hemorrhage with invasion of the hemorrhage into the ventricle system caused by a rupture of previously unknown large aneurysm in the terminal basilary artery. Intracranial vascular malformations are a common finding in patients with AGS and cause death in up to 16% of them.