What question did this study set out to answer?

To report a case of variegate porphyria diagnosed in an infant following liver transplantation.

March 17, 2026Gastroenterology report0 citationsOpen Access

Liver graft as a ‘Trojan horse’: manifestation of variegate porphyria in an 11-month-old girl with biliary atresia after living-related liver transplantation

USUlrich StölzelKlinikum Chemnitz BKBirgit KnoppkeUniversity Hospital Regensburg TSThomas StauchMVZ Labor Ravensburg

Key Points

To report a case of variegate porphyria diagnosed in an infant following liver transplantation.
Child received living-related liver transplantation from her mother.
Post-transplant, skin lesions developed, leading to further investigation.
Diagnosed through plasma fluorescence scanning, biochemical analysis, and DNA testing.
Variegate porphyria diagnosed five months after transplantation.
Hepatic heme synthesis was induced due to medication, stress, and infection.
Previously unknown partial enzyme deficiency of PPOX was unmasked.

Abstract

Abstract We report on an infant girl with biliary atresia, who, at the age of 6 months, received a living-related liver transplantation (LRLT), (segments II/III) from her 37-year-old healthy mother. Five months after LRLT, the child developed skin lesions on sunlight exposed skin areas. Based on plasma fluorescence scanning, biochemical findings and DNA testing variegate porphyria (VP) was diagnosed in the girl. In this remarkable case hepatic heme synthesis was induced in the transplanted liver through medication (metamizole), stress and infection (cholangitis), unmasking previously undiscovered partial enzyme deficiency of PPOX. LRLT with subsequent manifestation of heterozygous VP in very early childhood has not been described hitherto. Our report will increase awareness of “rare risks” for “rare diseases” in liver transplantation.

Ask AI

Helpful

Bookmark

View Full Paper