Liver cirrhosis in an infant with Chanarin–Dorfman syndrome caused by a novel splice‐site mutation in ABHD5 |
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| Authors: | M Cakir C Bruno A Cansu U Cobanoglu E Erduran |
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| Affiliation: | 1. .Department of Pediatric Gastroenterology Hepatology and Nutrition, Karadeniz Technical University, Trabzon, Turkey;2. .Muscular and Neurodegenerative Disease Unit, Giannina Gaslini Institute, University of Genova, Genova, Italy;3. .Department of Radiology, Karadeniz Technical University, Trabzon, Turkey;4. .Department of Pathology, Karadeniz Technical University, Trabzon, Turkey;5. .Department of Pediatric Hematology, Karadeniz Technical University, Trabzon, Turkey |
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| Abstract: | We described a Turkish girl with Chanarin–Dorfman syndrome who developed liver cirrhosis in the early infancy. She had all the clinical features of Chanarin–Dorfman syndrome such as ichthyosis, Jordan’s anomaly, fatty liver disease and mild ectropion. The diagnosis was confirmed with a novel ABHD5 mutation. Liver steatosis or steatohepatitis with or without hepatomegaly is the predominant finding of Chanarin–Dorfman syndrome. Cirrhosis has been reported in patients with long‐duration disease. Conclusion: Local factors or dysfunction of local proteins such as mutations or polymorphisms in hepatic microsomal lipase and arylacetamide deacetylase may contribute the severity of liver involvement, and steatosis may progress to cirrhosis in the early infancy in Chanarin–Dorfman syndrome. |
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| Keywords: | Chanarin‐Dorfman syndrome Fatty liver disease Infancy Liver cirrhosis |
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