Liver Transplant Outcome in Chanarin-Dorfman Syndrome: A Rare Lipid Storage Disease

Exp Clin Transplant. 2024 Dec;22(12):961-963. doi: 10.6002/ect.2024.0280.

Abstract

Chanarin-Dorfman syndrome is a multisystem inherited metabolic disorder characterized by congenital ichthyosis and lipid droplet accumulation in various organs, including the liver, muscles, and skin. The accumulation of lipids in the liver can lead to cirrhosis, liver failure, and even hepatocellular carcinoma. Here, we present a 17-year-old girl who underwent a deceased donor liver transplant to treat uncompensated cirrhosis due to Chanarin-Dorfman syndrome. She underwent a successful liver transplant in January 2019 and has remained, to date, with a completely normal liver profile, without any posttransplant complications such as infection, rejection, and disease recurrence. There have been a few reported cases of liver transplants in Chanarin-Dorfman syndrome. This unique report presents the 5-year outcome of liver transplant in Chanarin-Dorfman syndrome and aims to improve knowledge about the specific treatment in these rare cases.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Female
  • Humans
  • Ichthyosiform Erythroderma, Congenital* / diagnosis
  • Ichthyosiform Erythroderma, Congenital* / surgery
  • Lipid Metabolism, Inborn Errors* / complications
  • Lipid Metabolism, Inborn Errors* / diagnosis
  • Lipid Metabolism, Inborn Errors* / surgery
  • Liver Cirrhosis / diagnosis
  • Liver Cirrhosis / surgery
  • Liver Transplantation*
  • Muscular Diseases
  • Time Factors
  • Treatment Outcome

Supplementary concepts

  • Chanarin-Dorfman Syndrome