title: A rare cause of Fatty liver and elevated aminotransferase levels: chanarin-dorfman syndrome: a case report.
abstract: Chanarin-Dorfman syndrome is a rare, inherited metabolic disorder of neutral lipid storage characterized by ichthyosis, lipid vacuoles in leukocytes, and involvement of several internal organs, mostly the liver. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported, and the majority were from Middle East countries. Here, we report a 20-year-old patient with ichthyosis from Turkey, diagnosed as Chanarin-Dorfman syndrome presented with asypmtomatic elevated transaminases and hepatosteatosis, and also briefly review the updated clinical implications and management of this rarely seen syndrome. Prompt diagnosis of this syndrome avoids further unnecessary investigations in patients with ichthyosis.
authors: Department of Gastroenterology, Şişli Etfal Training and Research Hospital, 34377 Istanbul, Turkey.
authors: Ozdal
authors: O
authors: Ersoy
authors: Canan
authors: C
authors: Alkım
authors: Mehmet Derya
authors: MD
authors: Onuk
authors: Hüseyin
authors: H
authors: Demirsoy
authors: Dilek
authors: D
authors: Argon