TY - JOUR
T1 - Liver cirrhosis in an infant with Chanarin-Dorfman syndrome caused by a novel splice-site mutation in ABHD5
AU - Cakir, M.
AU - Bruno, C.
AU - Cansu, A.
AU - Cobanoglu, U.
AU - Erduran, E.
PY - 2010/10
Y1 - 2010/10
N2 - 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.
AB - 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.
KW - Chanarin-Dorfman syndrome
KW - Fatty liver disease
KW - Infancy
KW - Liver cirrhosis
UR - http://www.scopus.com/inward/record.url?scp=77956389764&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77956389764&partnerID=8YFLogxK
U2 - 10.1111/j.1651-2227.2010.01869.x
DO - 10.1111/j.1651-2227.2010.01869.x
M3 - Article
C2 - 20528790
AN - SCOPUS:77956389764
VL - 99
SP - 1592
EP - 1594
JO - Acta Paediatrica, International Journal of Paediatrics
JF - Acta Paediatrica, International Journal of Paediatrics
SN - 0803-5253
IS - 10
ER -