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 m...

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Bibliographic Details
Published in:Acta Paediatrica 2010-10, Vol.99 (10), p.1592-1594
Main Authors: Cakir, M, Bruno, C, Cansu, A, Cobanoglu, U, Erduran, E
Format: Article
Language:English
Subjects:
1-Acylglycerol-3-Phosphate O-Acyltransferase - genetics
Biological and medical sciences
Chanarin-Dorfman syndrome
Child, Preschool
Cirrhosis
Consanguinity
Fatty liver
Fatty Liver - etiology
Fatty liver disease
Female
Gastroenterology. Liver. Pancreas. Abdomen
Gene polymorphism
General aspects
Humans
Ichthyosiform Erythroderma, Congenital - diagnosis
Ichthyosiform Erythroderma, Congenital - diet therapy
Ichthyosiform Erythroderma, Congenital - genetics
Ichthyosis
Infancy
Infants
Lipid Metabolism, Inborn Errors - diagnosis
Lipid Metabolism, Inborn Errors - diet therapy
Lipid Metabolism, Inborn Errors - genetics
Liver Cirrhosis
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Medical sciences
Muscular Diseases - diagnosis
Muscular Diseases - diet therapy
Muscular Diseases - genetics
Mutation
Other diseases. Semiology
RNA Splice Sites - genetics
steatosis
Triacylglycerol lipase
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Summary: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.
ISSN:0803-5253
1651-2227
DOI:10.1111/j.1651-2227.2010.01869.x