Chanarin-Dorfman Syndrome.
نویسندگان
چکیده
Chanarin-Dorfman syndrome is a rare, genetically determined autosomal recessive disorder, characterised by the presence of lipid droplets in the cytoplasm of multiple tissues of the body, particularly in the blood leukocytes and congenital non-bullous icthyosiform erythroderma. In this paper, we report one-year child who presented with skin lesions since birth and hepatomegaly. Liver biopsy showed steatohepatitis; and peripheral blood smear confirmed Jordan`s anomaly, which is a permanent feature of Chanarin-Dorfman syndrome.
منابع مشابه
Dorfman-Chanarin syndrome: a case with hyperlipidemia.
Dorfman-Chanarin syndrome is a rare, autosomal recessive disorder characterized by congenital ichthyosis and presence of intracellular lipid droplets in most tissues. Here, we present a patient from Turkey, who is the fourth Turkish case in the literature with this syndrome, and we review the previous reported cases. He was also the second case reported with hyperlipidemia.
متن کاملA Rare Cause of Fatty Liver and Elevated Aminotransferase Levels: Chanarin-Dorfman Syndrome: A Case Report
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 ...
متن کاملThe anesthetic management of a patient with Dorfman-Chanarin syndrome.
Dorfman-Chanarin syndrome (DCS), which is also known as neutral lipid storage disease, is a rare autosomal recessive inherited lipid storage disease with congenital ichthyotic erythroderma. Since the Dorfman-Chanarin syndrome is a multisystemic disease the choice of drugs and the conduct of anesthesia in these patients are important. Preoperative evaluation should be performed in detail and ane...
متن کاملChanarin-Dorfman Syndrome with Absent Jordan's Anomaly
Sir, Chanarin‐Dorfman syndrome (CDS) is a rare inherited disorder characterized by congenital ichthyosis, nonbullous ichthyosiform erythroderma, myopathy, and hepatic involvement with deposition of neutral lipids in skin, muscle, liver, central nervous system, and granulocytes. Variable skin and systemic involvement makes diagnosis difficult in some cases wherein an easy screening tool in the f...
متن کاملChanarin-Dorfman syndrome: a novel mutation in a Turkish girl.
Chanarin-Dorfman syndrome (CDS) is an autosomal recessive disorder, characterized by intracellular accumulation of lipid droplets in most tissues. It is very difficult to find a correlation between the phenotypic and genotypic features due to the occurrence of novel ABHD5 [ α/β hydrolase domain-containing protein-5; originally called CGI-58 (comparative gene identification-58)] mutations and th...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
دوره 26 9 شماره
صفحات -
تاریخ انتشار 2016