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Ichthyosis, cataracts, and motor delay in an infant: A case of Chanarin-Dorfman syndrome. Pediatric dermatology Luu, Y., Pithadia, D. J., Teng, J., Khuu, P. 2023

Abstract

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.

View details for DOI 10.1111/pde.15258

View details for PubMedID 36709747