Ichthyosis, cataracts, and motor delay in an infant: A case of Chanarin-Dorfman syndrome.

Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessive disorder of impaired triacylglycerol catabolism leading to cytoplasmic deposition of triglycerides in various cell types. We describe the case of an 8-month-old boy with cataracts, strabismus, motor delays, and an ichthyosiform rash since birth. Genetic testing revealed a pathogenic variant of the ABHD5 gene, suggestive of CDS, and further workup demonstrated hepatic steatosis and myopathy. His ichthyosis improved with initiation of a diet low in very long-chain fatty acids and medium-chain fatty acid supplementation.

[The Harlequin Baby syndrome. A new case]. / Le syndrome du bébé arlequin. Une nouvelle observation.

The Harlequin baby syndrome is a rare but lethal ichtyosis. We report a new case of a primiparous woman of 28 years of age who had a pregnancy that progressed normally with the delivery of a child of 2,450 grams whose Apgar was 9 at one minute and 10 at three minutes, but who died after living just 24 hours. The reason for this work is to try to analyse the features that are known about possible treatment and antenatal diagnosis of the Harlequin baby syndrome. It has been suggested that vitamin A supplements should be given for several years because the skin state may be improved. On the other hand morbidity is likely to remain serious particularly from the point of view of growth and psychomotor development. Antenatal diagnosis using skin biopsy can be obtained after 23 weeks of amenorrhoea using a fetoscope; it shows the 25% of cases recur. At present the only treatment if a recurrence does occur is to terminate the pregnancy.