Alstrom syndrome with liver cirrhosis: First case from Turkey

Alstrom 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. Alstrom syndrome is a very rare cause of liver cirrhosis. Post-mortem biopsies of patients with Alstrom syndrome show relevant fibrosis in multiple organs especially in the liver, kidneys, heart, and lungs. We report the case of a patient with Alstrom syndrome who presented to emergency department with esophageal variceal bleeding and who was not known to have hepatic cirrhosis before.