51. Two rare cases of steatohepatitis in neutral lipid storage disorder-Chanarin Dorfman syndrome

Abstract

Background: Chanarin Dorfman syndrome a rare genetically determined autosomal recessive neutral lipid storage disorder caused by mutations in ABHD5 gene which is involved in lipid metabolism characterised by lipid droplets in cytoplasm of blood leucocytes and multiple tissues of body particularly liver causing stetatohapatitis which may rapidly progress to cirrhosis, and peripheral smear shows Jordans anamoly. In literature less than 60 cases have been reported. Case Summary: Here we present two cases of 4 years old and 6 years old male children who are brothers presented with icthyosis, elevated liver enzymes and liver biopsy showed steatohepatitis and peripheral smear showed Jordans anamoly and also will review briefly the clinical implications and management of this rare syndrome. Conclusions: Chanarin Dorfman syndrome should be considered as a differential among the cases of steatohepatitis. The author has none to declare.