Bilateral cysts in the choroid plexus in a patient with autosomal dominant polycystic kidney disease

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic systemic disorder, which is associated with cyst formation in several organs, renal function decline and a higher prevalence of intracranial aneurysms. We report a 52-year-old, otherwise healthy, man with ADPKD who had asymptomatic, bilateral, multiple cysts in the choroid plexus, which is an extremely rare abnormality. Recent evidence suggests that the polycystin proteins, which are dysfunctional in ADPKD, are found in ciliated choroid plexus cells that are involved with regulation of cerebrospinal fluid homeostasis. We hypothesize therefore that choroid plexus cysts may be part of the ADPKD phenotype, which has not been described before.

Keywords: PKD1; PKD2; autosomal dominant polycystic kidney disease; brain cysts; choroid plexus.