S5918 Uncharted Territory: A Potential Genetic Link Between Multiple Hepatic Cysts and Sensorineural Hearing Loss

Introduction: Multiple hepatic cysts are rare in the absence of polycystic kidney disease (PCKD), and their underlying causes remain unclear. While often considered incidental, emerging genetic insights suggest possible links between hepatic and extrahepatic conditions. This case highlights a potential novel association between multiple hepatic cysts and genetic mutations linked to sensorineural hearing loss (SNHL), raising questions about shared genetic pathways. Case Description/Methods: A 49-year-old woman presented with vague abdominal discomfort, bloating, and episodic right upper quadrant pain. Imaging: Multiple hepatic cysts without renal involvement. Genetic Testing: Identified pathogenic variants in SNHL-associated genes, but no mutations linked to PCKD or polycystic liver disease (PLD). Given the absence of known risk factors, this case suggests a potentially unrecognized genetic connection between hepatic cysts and SNHL. Discussion: This case introduces a novel hypothesis of a shared genetic pathway between hepatic cyst formation and SNHL-related mutations. While conservative management with routine monitoring was initially pursued, worsening symptoms led to consideration of interventional cyst drainage. Understanding these potential links could improve diagnostic accuracy and enhance surveillance strategies for patients with unexplained hepatic and extrahepatic abnormalities. Further research into genetic mechanisms underlying hepatic cysts may reveal new syndromic conditions and expand our knowledge of hepatic cyst pathogenesis.