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

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.

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Publication Details

Journal
International Journal of Surgical Pathology
Published
2026-04-01
DOI
https://doi.org/10.1177/10668969261437755
Primary Topic
Neurogenetic and Muscular Disorders Research
Type
article
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article

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

Zhikai Chi, Mohamed Moustafa, Lan Peng
International Journal of Surgical Pathology
Neurogenetic and Muscular Disorders Research
article

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

Zhikai Chi, Mohamed Moustafa, Lan Peng
article en

Abstract

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.

International Journal of Surgical Pathology
The University of Texas Southwestern Medical Center (US)
Good health and well-being
Openalex Percentile: Top 30%
Neurogenetic and Muscular Disorders Research
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