Histomorphological Features of a Liver Explant From an Adult With Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome: A Case Report and Literature Review.
Mohamed Moustafa, Lan Peng, Zhikai Chi
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Case in brief
A woman in her early twenties with genetically confirmed arthrogryposis-renal dysfunction-cholestasis syndrome, carrying compound heterozygous VPS33B mutations, developed progressive liver dysfunction and decompensation, leading to liver transplantation. Examination of the explanted liver showed established cirrhosis, focal interlobular bile duct loss, marked cholestasis, feathery degeneration, and copper deposits.
What made this case unusual
The report describes explant histopathology in an adult with ARC syndrome, documenting cirrhosis alongside bile duct loss, cholestasis, feathery degeneration, and copper deposition.
Diagnostic / clinical pearl
In ARC syndrome with progressive liver dysfunction, explant examination may show established cirrhosis with cholestatic injury, bile duct loss, and copper deposits.