Ersoy Ozdal, Alkım Canan, Onuk Mehmet Derya, Demirsoy Hüseyin, Argon Dilek
Department of Gastroenterology, Şişli Etfal Training and Research Hospital, 34377 Istanbul, Turkey.
Int J Hepatol. 2011;2011:341372. doi: 10.4061/2011/341372. Epub 2011 Jan 20.
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.
查纳林-多夫曼综合征是一种罕见的遗传性中性脂质储存代谢紊乱疾病，其特征为鱼鳞病、白细胞中的脂质空泡以及多个内脏器官受累，主要是肝脏。自1974年多夫曼报告首例病例以来，已报告了近50例病例，其中大多数来自中东国家。在此，我们报告一名来自土耳其的20岁鱼鳞病患者，被诊断为查纳林-多夫曼综合征，表现为无症状性转氨酶升高和肝脂肪变性，并简要回顾了这种罕见综合征的最新临床意义及治疗方法。对该综合征的及时诊断可避免对鱼鳞病患者进行进一步不必要的检查。
