# Long-term neuromuscular, cardiac and liver outcomes in an adult man affected with Chanarin-Dorfman syndrome

## TL;DR

This paper reports on a man with Chanarin-Dorfman syndrome and his long-term health outcomes, including muscle, heart, and liver issues, and the effectiveness of dietary and medical treatments.

## Contribution

The paper provides a detailed case study on long-term outcomes and management strategies for Chanarin-Dorfman syndrome in an adult.

## Key findings

- A low-fat diet, MCT oil, and co-enzyme Q10 improved muscle strength and stabilized symptoms.
- Lipid accumulation in muscle fibers may be a diagnostic feature of the syndrome.
- Regular cardiac MRI is important for monitoring the condition.

## Abstract

Chanarin-Dorfman syndrome (CDS) is an ultra-rare autosomal recessive subtype of neutral lipid storage disorder (NLSD); it is characterised by ichthyosis and intracytoplasmic accumulation of lipid droplets containing triglycerides, most commonly in granulocytes, muscle fibres, skin and liver. Several pathogenic variants in the ABHD5/CGI-58 gene have been described. Clinical manifestations include steatohepatitis, myopathy, ophthalmic disease, developmental delay. Liver involvement is an important cause of morbidity and mortality.

We present a case of a 26-year-old male diagnosed with ichthyotic NLSD in childhood, who developed progressive myopathy and cardiac fibrosis in adulthood. He was treated with a combination of low-fat diet, MCT oil and co-enzyme Q10 which resulted in an initial improvement in muscle strength and stabilisation of muscle symptoms and well-being.

Synopsis: Medical and dietetic management of liver and muscle complications in Chanarin-Dorfman syndrome.

•Marked vacuolation of neutrophils on blood film is consistent with Jordan's anomaly•Ichthyosis, raised creatine kinase, Jordan's anomaly and new onset myopathy are pathognomonic features of with Chanarin-Dorfman syndrome.•Lipid accumulation in type 1 and 2 fibres may be a diagnostic feature of the condition•The severity of the generalized ichthyosis is not correlated with the presence of lipid droplets in the epidermis•A low-fat diet, ursodeoxycholic acid and vitamin E can be recommended for patients with liver involvement.•Regular cardiac MRI is important for monitoring Chanarin-Dorfman syndrome.

Marked vacuolation of neutrophils on blood film is consistent with Jordan's anomaly

Ichthyosis, raised creatine kinase, Jordan's anomaly and new onset myopathy are pathognomonic features of with Chanarin-Dorfman syndrome.

Lipid accumulation in type 1 and 2 fibres may be a diagnostic feature of the condition

The severity of the generalized ichthyosis is not correlated with the presence of lipid droplets in the epidermis

A low-fat diet, ursodeoxycholic acid and vitamin E can be recommended for patients with liver involvement.

Regular cardiac MRI is important for monitoring Chanarin-Dorfman syndrome.