Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5.
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.


CONCLUSIONS
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.
Department of Pediatric Gastroenterology Hepatology and Nutrition, Karadeniz Technical University, Trabzon, Turkey. muratcak@hotmail.com
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M
Cakir
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Bruno
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Cansu
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Cobanoglu
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Erduran
D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D005234:Fatty Liver / Q000209:etiology; D005260:Female; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics; D008103:Liver Cirrhosis; D009135:Muscular Diseases / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics; D009154:Mutation; D022821:RNA Splice Sites / Q000235:genetics*
D022821:RNA Splice Sites; D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase; C439972:ABHD5 protein, human