Screening for intracranial aneurysms in patients with isolated polycystic liver disease

Object. Isolated polycystic liver disease, that is, polycystic liver diseas e without kidney cysts, is an entity distinct from polycystic kidney diseas e. It is not known whether patients with isolated polycystic liver disease are at an increased risk for developing intracranial aneurysms: similar to patients with polycystic kidney disease. The authors screened individuals f or intracranial aneurysms in a family in which isolated polycystic liver di sease occurred to study the relationship between these two disorders. Methods. Six siblings requested screening for intracranial aneurysms. Their father had died of a middle cerebral artery aneurysm. Isolated polycystic Liver disease was found at autopsy. Their paternal aunt had died of a basil ar artery aneurysm, but no autopsy had been performed in that case. Screeni ng with magnetic resonance (MR) angiography and subsequent conventional ang iography showed a 5-mm posterior communicating artery aneurysm in one sibli ng in whom abdominal ultrasound examination yielded normal findings and a p osterior communicating artery infundibulum in another sibling in whom an ul trasound examination detected isolated polycystic liver disease. Screening did not detect aneurysms or polycystic liver disease in the other siblings. Thus, of the two patients with isolated polycystic liver disease in this f amily, one had a ruptured aneurysm and the other had an infundibulum. Conclusions. Findings in this family suggest an association between isolate d polycystic liver disease and intracranial aneurysms. However, because of the delay in onset of the appearance of liver cysts in individuals who carr y the disease gene, abdominal ultrasonography is not a useful method to exc lude those family members at risk for aneurysm development.