Alstrom syndrome with liver cirrhosis: First case from Turkey

Abstract

Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. Alström syndrome is a very rare cause of liver cirrhosis. Postmortem biopsies of patients with Alström syndrome show relevant fibrosis in multiple organs especially in the liver, kidneys, heart, and lungs. We report the case of a patient with Alström syndrome who presented to emergency department with esophageal variceal bleeding and who was not known to have hepatic cirrhosis before.