Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings

Abstract

Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolism disorder associated with congenital ichthyosis and multi-system involvement. Observation of lipid vacuoles in neutrophils (Jordan’s anomaly) in peripheral blood smears in patients with ichthyosiform erythroderma is diagnostic. Herein we present 2 siblings with CDS that were referred to Dokuz Eylul University School of Medicine Department of Pediatrics due to ichthyosis. They had hepatomegaly, cataract, growth retardation, and sensorineural hearing loss. Some lipid vacuoles in neutrophils were noted in peripheral blood smear evaluation. Genetic analysis showed homozygous N209X mutation in both patients. They were put on a low-fat high-carbohydrate diet supplemented with medium-chain fatty acids. During 6 months of follow-up, no improvement was observed in both patients. In conclusion, although CDS is a rare lipid storage disease, it should always be a consideration in patients with congenital ichthyosis, especially those with extracutaneous symptoms or signs. The diagnosis of CDS is made based on a very simple test-peripheral blood smear.Conflict of interest:None declared.

A New Patient of Chanarin Dorfman Syndrome in Egypt

“…Serum lipid profile has been inconsistent in various reports. Some patients had elevated triglyceride levels and very low density lipoproteins [10], while our patient had normal serum triglycerides similar to what was previously reported by [4,11]. The clinical diagnosis of CDS is based on observation of Jordans' bodies [12], which is also described in our patient's peripheral neutrophils and their myeloid precursors in bone marrow.…”

A Two-Year-Old Child with Bilateral Symmetrical Papulosquamous Lesions

“…It was first observed by Jordan later, Dorfman and Chanarin reported it for the first time as a NLSD. The syndrome is caused by the mutation of the abhydrolase domain containing 5 (ABHD5)[ 1 2 ] (formerly CGI-58) gene. This gene produces a protein involved in fat metabolism, called CGI-58, which is a cofactor that helps the activity of the main enzyme adipose triacylglycerol lipase (ATGL).…”

Chanarin-Dorfman Syndrome: A Case Report

“…CDS is a rare autosomal recessive metabolic disease, characterized by accumulation of lipid vacuoles in different organ systems. Mutation in ABHD5/CG 158 gene which is responsible for the activation of enzyme hydrolysing triacylglycerol, triglyceride lipase is the main metabolic defect (5). Mutation in ABHD5/CG158 gene causes accumulation of lipid molecules in leukocytes, fibroblasts, liver and muscle cells by inhibition of lipolysis which is responsible for the symptoms like ichtyosis, loss of hearing, hepatomegaly, splenomegaly, cirrhosis, cataract, myopathy and mental retardation (6)(7)(8).…”