Biliary Cirrhosis in Myhre Syndrome: The First Case Report of Liver Transplantation and a Review of Reported Hepatic Findings.
Yiyoung Kwon, Sukyung Kim, Yoon Zi Kim et al.
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Case in brief
A 15-year-old male with Myhre syndrome, caused by a SMAD4 p.Ile500Val variant, presented with rapidly progressive biliary cirrhosis following an infectious episode. He developed severe cholestasis, with imaging and histopathology indicating fibro-obliterative cholangiopathy. This condition necessitated living donor liver transplantation, marking a significant intervention in the management of this rare syndrome.
What made this case unusual
This case is notable as it is the first report of biliary cirrhosis in Myhre syndrome, highlighting a previously unrecognized severe hepatic complication.
Diagnostic / clinical pearl
Clinicians should consider the potential for severe hepatic involvement in Myhre syndrome, particularly in the context of infection, which may trigger rapid progression of liver disease.
Why it matters
This case underscores the importance of thorough hepatic evaluation in patients with Myhre syndrome, as prior reports indicated only mild liver abnormalities, suggesting a need for increased awareness of potential complications.