Histomorphological Features of a Liver Explant From an Adult With Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome: A Case Report and Literature Review

Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome is a rare, early-lethal disorder caused by VPS33B or VIPAS39 gene mutations. We report a female patient in her early twenties with genetically confirmed ARC syndrome harboring the compound heterozygous mutations VPS33B c.242delT and c.1726T>C. The patient's liver dysfunction progressed to decompensation and subsequently she underwent a liver transplant. Histological examination of the explanted liver revealed well-established cirrhosis with focal interlobular bile duct loss, marked cholestasis, feathery degeneration, and copper deposits. This is the first report of liver explant histopathology from an adult ARC syndrome patient. These findings broaden the genotypic and histological findings of ARC syndrome.