Object: Isolated polycystic liver disease, that is, polycystic liver disease without kidney cysts, is an entity distinct from polycystic kidney disease. 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 for intracranial aneurysms in a family in which isolated polycystic liver disease 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 basilar artery aneurysm, but no autopsy had been performed in that case. Screening with magnetic resonance (MR) angiography and subsequent conventional angiography showed a 5-mm posterior communicating artery aneurysm in one sibling in whom abdominal ultrasound examination yielded normal findings and a posterior communicating artery infundibulum in another sibling in whom an ultrasound 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 family, one had a ruptured aneurysm and the other had an infundibulum.
Conclusions: Findings in this family suggest an association between isolated polycystic liver disease and intracranial aneurysms. However, because of the delay in onset of the appearance of liver cysts in individuals who carry the disease gene, abdominal ultrasonography is not a useful method to exclude those family members at risk for aneurysm development.