Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents

Abstract

BackgroundChanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by ichthyosiform non-bullous erythroderma and variable involvement of the liver and the neuromuscular system. In CDS patients, the accumulation of neutral lipids inside cytoplasmic lipid droplets has been demonstrated in different tissues. To date, ninety families with this disease have been described worldwide; most of them are from Mediterranean countries.Case presentationIn this report, we describe a consanguineous Turkish family with typical features of CDS. The parents are first cousins and are both diseased. At the age of eight, their child presented CDS with non-bullous congenital ichthyosiform erythroderma, hepatosteatosis, hepatomegaly and ectropion. Electromyographic examination is compatible with myopathy. A five-year-old cousin of the child is also affected by CDS. She was born to non-affected consanguineous parents. Mutation analysis of the ABHD5 gene revealed the previously reported mutation, N209X, which is the most frequent in Turkish patients. Lipid vacuoles, also known as Jordan’s anomaly, are detectable in their leucocytes.ConclusionsTo the best of our knowledge, this is the first report of a CDS family in which both parents and their child are affected by CDS. To date, the child does not present a more severe clinical phenotype compared with those of his relatives or other CDS patients of the same age. These findings suggest that high levels of triacylglycerol accumulation, that may be supposed to be present in high amount inside the ooplasm, did not affect embryo development and foetal growth.Electronic supplementary materialThe online version of this article (10.1186/s12881-018-0610-0) contains supplementary material, which is available to authorized users.

Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function

“…Sensorineural hearing loss is present in almost 30% of NLSDI patients. Myopathy usually begins in the 30s and muscle abnormalities can be detected in 40% of subjects [60,64]. Unlike NLSDM patients, NLSDI patients do not develop cardiomyopathy, probably because their cardiomyocytes have a limited but sufficient amount of energy.…”

A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings

“…To date, 150 cases have been described worldwide [3,4]. Many of them have been reported from the Mediterranean and Middle-East region, especially Turkey, where consanguineous marriages are still common [5]. Mutations in ABHD5 have been demonstrated as the responsible defect of CDS [6].…”

Chanarin–Dorfman syndrome: a novel homozygous mutation in the ABHD5 gene

“…CDS is caused by mutations affecting the human CGI‐58 gene, also known as the ABDH5 gene, located on chromosome 3p21. To date, > 90 families with this disease have been reported, with > 30 mutations spanning different domains of its translated protein described . Most of the affected patients are of Mediterranean origin.…”

“…Ichthyosis from birth was a universal presentation, followed by liver disease, which can be seen in > 80% of individuals and as early as 1 year of age. Myopathy typically begins in the thirties, but has also been reported in very young children and can be easily missed . The lack of correlation between the genotype and the severity of the disease may be explained by the role of epigenetic and environmental factors.…”

“…Myopathy typically begins in the thirties, but has also been reported in very young children and can be easily missed. 2 The lack of correlation between the genotype and the severity of the disease may be explained by the role of epigenetic and environmental factors. In fact, a diet low in long-chain fatty acids has been shown to decrease the severity of both dermatological and hepatic involvement, 5 and thus this was advised for our patient.…”