Biliary Cirrhosis in Myhre Syndrome: The First Case Report of Liver Transplantation and a Review of Reported Hepatic Findings.

Fibro-obliterative injury triggered by SMAD4-TGF-β signaling after infectious inflammation

A 15-year-old with SMAD4 p.Ile500Val (Myhre syndrome) developed rapidly progressive biliary cirrhosis following an infectious episode, requiring living donor liver transplantation. A systematic review of 55 publications covering 217 Myhre patients found no prior cases of progressive biliary fibrosis. This case suggests SMAD4-TGF-β signaling may predispose specific organs to fibro-obliterative injury triggered by infectious inflammation, expanding the spectrum of potentially fatal complications in Myhre syndrome.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

This first liver transplantation case in Myhre syndrome significantly expands the spectrum of potentially fatal complications. The biology is consistent: SMAD4 is a central fibrosis mediator via TGF-β. Systematic hepatic evaluation and particular vigilance during infections warrant inclusion in Myhre patient follow-up protocols.

Clinical impact: 2/3 · Evidence quality: 1/3 · Novelty: 2/2 · Sample size: 0/1 · Journal quality: 0/1 → Total: 5/10