Chanarin-Dorfman Syndrome: A Case Report

Chanarin-Dorfman syndrome is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in various types of cells. Mutation of ABHD5/CG158 gene in the short arm of the 3rd chromosome is responsible from the main metabolic defect. Clinically, the disease is presented with ichthyosis, hearing loss, hepatomegaly, splenomegaly, cirrhosis, cataract, keratopathy, myopathy, and mental retardation. Here we present a case of Chanarin-Dorfman syndrome in a 2 years girl with who had ichthyosis, elevation of liver enzymes, hepatomegaly and mutation of ABHD5

The effect of a Mediterranean diet vs. a low-fat diet on non-alcoholic fatty liver disease in children: a randomized trial

Non-alcoholic fatty liver disease (NAFLD) is becoming ever more common in children, due to the increasing global prevalence of obesity. The first-line treatment consists of weight loss through a combination of a healthy diet and exercise. The objective of this study was to determine the effects of a Mediterranean Diet or a low-fat diet on reducing hepatic steatosis and insulin resistance in children with NAFLD. This 12-week randomised clinical trial was conducted with children aged 9-17 years diagnosed with NAFLD and randomised into either a Mediterranean Diet or a low-fat diet group. By the end of the study, hepatic steatosis had decreased significantly in both groups (p < 0.001). Liver enzymes also improved significantly, while significant decreases were observed in insulin resistance in both groups, although this decrease was greater in the Mediterranean Diet group (p = 0.010). This study demonstrated that a decrease in hepatic steatosis and an improvement in insulin sensitivity can be achieved with both a Mediterranean Diet and a low-fat diet over 12 weeks, with no significant decrease in the energy required for growth, in children with NAFLD