Mogahed Engy A, El-Hennawy Ahmed, El-Sayed Rokaya, El-Karaksy Hanaa
Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
Department of Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.
Arab J Gastroenterol. 2015 Sep-Dec;16(3-4):142-4. doi: 10.1016/j.ajg.2015.06.006. Epub 2015 Oct 28.
Chanarin-Dorfman syndrome, a "neutral lipid storage disease with ichthyosis," is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in various types of cells.
A 3-year-old male presented to the Pediatric Hepatology Unit, Cairo University Children's Hospital, Cairo, Egypt, with accidentally discovered hepatomegaly. He had generalised ichthyosis with dark skin pigmentation and bilateral ectropion. Abdominal examination revealed generalised abdominal distention with firm nontender hepatomegaly. His liver functions were deranged. Blood film showed many vacuolated neutrophils. Serum triglyceride and creatine kinase levels were elevated. Abdominal ultrasound showed a moderately enlarged liver with a bright echo pattern. Liver biopsy revealed marked diffuse macrovesicular fatty changes. The diagnosis of Chanarin-Dorfman Syndrome was made based on the dermatological, haematological, and liver biopsy findings.
钱纳林-多尔夫曼综合征，一种“伴有鱼鳞病的中性脂质贮积病”，是一种多系统遗传性代谢紊乱疾病，与先天性鱼鳞病以及脂质小滴在各类细胞中的蓄积有关。
一名3岁男性患儿因意外发现肝肿大就诊于埃及开罗开罗大学儿童医院小儿肝病科。他患有全身性鱼鳞病，伴有皮肤色素沉着加深和双侧睑外翻。腹部检查发现全腹膨隆，肝脏肿大、质地硬且无压痛。其肝功能紊乱。血涂片显示许多空泡化中性粒细胞。血清甘油三酯和肌酸激酶水平升高。腹部超声显示肝脏中度肿大，回声增强。肝活检显示明显的弥漫性大泡性脂肪变。根据皮肤、血液学及肝活检结果诊断为钱纳林-多尔夫曼综合征。
