Liver transplantation evaluation in a patient with Chanarin-Dorfman Syndrome: A Case Report

Abstract

Introduction

Chanarin-Dorfman Syndrome (CDS) is a rare autosomal recessive neutral lipid storage disease characterized by ichthyosis, hepatic steatosis, and multisystem involvement. CDS should be considered in cases of cryptogenic cirrhosis with dermatological and systemic findings to ensure timely diagnosis and management.

Methods

We present the case of a 49-year-old male with decompensated cryptogenic cirrhosis referred for liver transplantation evaluation. The patient had lifelong ichthyosis, cataracts, sensorineural hearing loss, and a family history of severe ichthyosis in a sibling with parental consanguinity. Laboratory tests and advanced imaging including CT, MRI, and cardiac MRI were performed. A peripheral blood smear was evaluated, and a genetic consultation was obtained.

Results

Laboratory tests revealed hyperbilirubinemia, elevated transaminases, thrombocytopenia, and a MELD-Na score of 19. Imaging confirmed cirrhosis with portal hypertension and ascites. Cardiac MRI demonstrated intramyocardial fibrosis and lipid deposition consistent with CDS. Peripheral blood smear revealed Jordans' anomaly, supporting the suspicion of CDS. Genetic consultation led to urgent molecular analysis for ABHD5 gene mutations, with the patient proceeding through pre-transplant evaluation.

Conclusion

This case highlights the importance of considering rare metabolic disorders such as CDS in the differential diagnosis of cryptogenic cirrhosis, particularly in the presence of dermatological and systemic findings. Early identification enables multidisciplinary management, genetic counseling, and tailored transplant evaluation, improving patient outcomes in advanced liver disease of unclear etiology.