title: Alström 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.
authors.affiliation: Department of Gastroenterology Konya University, School of Medicine, Konya, Turkey.
authors.forename: Murat
authors.initials: M
authors.lastname: Bıyık
authors.forename: Ramazan
authors.initials: R
authors.lastname: Uçar
authors.forename: Gökhan
authors.initials: G
authors.lastname: Güngör
authors.forename: Özlem Özer
authors.initials: ÖÖ
authors.lastname: Çakır
authors.forename: Hasan
authors.initials: H
authors.lastname: Esen
authors.forename: Serkan
authors.initials: S
authors.lastname: Aksan
authors.forename: Hüseyin
authors.initials: H
authors.lastname: Ataseven
authors.forename: Ali
authors.initials: A
authors.lastname: Demir
mesh_terms: D056769:Alstrom Syndrome / Q000150:complications*; D004932:Esophageal and Gastric Varices / Q000209:etiology*; D006396:Hematemesis / Q000209:etiology; D006801:Humans; D008103:Liver Cirrhosis / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D008551:Melena / Q000209:etiology; D035583:Rare Diseases / Q000150:complications*; D014421:Turkey; D055815:Young Adult