Published Date: September 25, 2023

Full Text Article

Chanarin-Dorfman Syndrome (CDS): A Rare Lipid Metabolism Disorder

Authors: Nisarg P Mangukiya, Safa Kaleem, D Ragasri Meghana, Lyluma Ishfaq, Gunjan Kochhar, Bejoi Mathew, Shivani Pulekar, Aashka C Lainingwala, Mihirkumar P Parmar, Vishal Venugopal

Cureus. 2023 Aug 21;15(8):e43889. doi: 10.7759/cureus.43889. eCollection 2023 Aug.


Chanarin-Dorfman syndrome (CDS) is a rare medical condition that is inherited in an autosomal recessive pattern. In CDS, a comparative gene identification-58 gene mutation causes the accumulation of triglycerides in neutrophils, which can be observed as vacuoles on a peripheral smear. CDS patients present with a characteristic dermatological finding, ichthyosis, which is a non-bullous white scaling of the skin. Here, we describe a case report of a one-year-old boy who presented to the pediatric outpatient department (OPD) with chief complaints of peeling of the skin and ballooning of the abdomen since birth. Our patient had achieved all the developmental milestones pertaining to his age. Genetic testing was positive for heterozygous alleles in both parents.

PMID: 37746493DOI: 10.7759/cureus.43889PMC: PMC10515467