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Updated: Jun 26, 2026
Small Bowel Transplantation In Mice
Published on: August 20, 2007
First multivisceral transplantation in Mitchell-Riley/Martinez-Frias syndrome
Karla Estefanía-Fernández1, Ane Andrés1, Alida Alcolea2
1Department of Pediatric Surgery, La Paz University Hospital, Madrid, Spain.
Background:
MRS/MFS is a rare multisystem disorder with a poor prognosis. The high mortality rate of this syndrome is related to the severity of the associated gastrointestinal, pancreatic, and hepatobiliary conditions, as most of them are not amenable to conventional medical and surgical treatments.
Methods:
We report the case of a Romani girl with all the key clinical features of MRS/MFS, and a review of cases reported in the literature. Our patient is a newborn from consanguineous parents who presented duodenal atresia, hypoplastic pancreas, gallbladder agenesis, and neonatal diabetes. Given the clinical suspicion of MRS/MFS, a genetic analysis was performed which revealed the presence of a homozygous variant in the RFX6 gene. During the course of the disease, the patient presented intractable secretory diarrhea and severe intestinal failure.
Results:
At 2 years of age, she underwent MVT of the stomach, duodenum, small intestine, colon, liver, and pancreas. There were no surgical complications. Histologic evaluation of the small bowel showed extensive patches of gastric heterotopia. After more than 10 years of follow-up, she had presented with normal gastrointestinal, hepatic, and pancreatic function. She has one of the longest survival periods in the literature.
Conclusions:
Our experience suggests that multivisceral transplantation may be a promising option in select cases of MRS/MFS.
Insights
Multivisceral transplantation (MVT) offers a promising survival option for rare multisystemic disorders like MRS/MFS. This case demonstrates long-term success in a patient with severe gastrointestinal and pancreatic conditions.
Area of Science:
- Genetics
- Pediatric Surgery
- Gastroenterology
Background:
- MRS/MFS is a rare, severe multisystem disorder with high mortality.
- Gastrointestinal, pancreatic, and hepatobiliary complications often resist conventional treatments.
Observation:
- A Romani newborn with MRS/MFS presented with duodenal atresia, hypoplastic pancreas, gallbladder agenesis, and neonatal diabetes.
- Genetic analysis revealed a homozygous RFX6 variant, confirming MRS/MFS.
- The patient experienced intractable secretory diarrhea and severe intestinal failure.
Findings:
- The patient underwent multivisceral transplantation (MVT) at age 2, involving stomach, duodenum, small intestine, colon, liver, and pancreas.
- Histology showed gastric heterotopia in the small bowel.
- Over 10 years post-transplant, the patient achieved normal gastrointestinal, hepatic, and pancreatic function, representing one of the longest survivals reported.
Implications:
- Multivisceral transplantation (MVT) may be a viable therapeutic strategy for select MRS/MFS cases.
- This case highlights the potential of MVT to significantly improve long-term outcomes in patients with complex congenital disorders.
