Chanarin-Dorfman Syndrome: Exceptional Liver Transplant Indication

Abstract

• Second Chanarin-Dorfman case published that was treated with a liver transplant. • Liver transplant is an excellent treatment of decompensated cirrhosis in Chanarin-Dorfman syndrome. • There is no evidence of recurrence of the disorder on the graft. We report the second case published about the use of liver transplant in the treatment of a patient with Chanarin-Dorfman syndrome with decompensated cirrhosis who presented excellent results after a 6-month follow-up without recurrence. Chanarin-Dorfman syndrome is an autosomal recessive metabolic disorder caused by a chromosome 3 gene mutation containing α/β-hydrolase 5 domain. It is characterized by the accumulation of neutral lipids in granulocytes of diverse organs, such as muscle, liver, eyes, ear, central nervous system, and bone marrow. The clinical expression consists of ichthyosis and hepatomegaly, followed by bilateral ectropion, cataract, neurosensory deafness, and splenomegaly. About 10% of these patients develop cirrhosis. Even though the management with low-fat diet enriched with medium-chain triglycerides along with ursodeoxycholic acid and vitamin E can normalize liver enzymes, reduce liver size, and minimize cirrhosis; once cirrhosis is established it will determine the patient's prognosis. Liver transplant could be the adequate treatment of a decompensated cirrhosis; in fact, there is no evidence of recurrence on the graft.