What is it about?
Chanarin-Dorfman syndrome (CDS) is an ultra-rare genetic condition that can impact multiple bodily systems. People with this syndrome usually have skin problems from birth, accumulation of fat in the liver, potentially escalating to liver failure, muscular issues, and, less frequently, eye problems, progressive hearing loss and cognitive difficulties. In our paper, we detailed the cases of two young CDS patients who exhibited severe involvement of multiple body systems, including a rare neurological symptom in one of them.
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Photo by National Cancer Institute on Unsplash
Why is it important?
This study contributes to widening the clinical and genetic spectrum associated with Chanarin Dorfman syndrome. Moreover, the present report reinforces the concept that distinct clinical symptoms may occur in association with the same mutation within the same family.
Perspectives
This rare genetic disorder is found in Mediterranean countries
Prof Corrado Angelini
Universita degli Studi di Padova Polo Bibliotecario di Scienze Farmacologia e Scienze Farmaceutiche
Writing this article provided me with the opportunity to expand my network of collaborations. I hope it can offer new information about a little-known disease that is likely underdiagnosed. In this way, there might be a chance to broaden the international collaboration network and find a cure for this disease, which is currently untreatable.
Dr Sara Missaglia
Universita Cattolica del Sacro Cuore
Read the Original
This page is a summary of: A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype, Genes & Diseases, May 2023, Tsinghua University Press,
DOI: 10.1016/j.gendis.2022.08.005.
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