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01 February 2024 : Case report  

[In Press] Successful Sequential Liver and Isolated Intestine Transplantation for Mitochondrial Neurogastrointestinal Encephalopathy Syndrome: A Case Report

Chandrashekhar A. Kubal ORCID logo1ABCDEF, Plamen Mihaylov1BC, Riley Snook ORCID logo2ACE, Daiki Soma1ACD, Omer Saeed3ACDE, Zachary Rokop1ABE, Marco Lacerda4AEF, Brett H. Graham ORCID logo5ADE, Richard S. Mangus ORCID logo1ADE

DOI: 10.12659/AOT.941881

Ann Transplant In Press; DOI: 10.12659/AOT.941881  

Available online: 2024-02-01, In Press, Corrected Proof

Publication in the "In-Press" formula aims at speeding up the public availability of the pending manuscript while waiting for the final publication. The assigned DOI number is active and citable. The availability of the article in the Medline, PubMed and PMC databases as well as Web of Science will be obtained after the final publication according to the journal schedule


Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is an autosomal recessive disease caused by thymidine phosphorylase deficiency leading to progressive gastrointestinal dysmotility, cachexia, ptosis, ophthalmoparesis, peripheral neuropathy and leukoencephalopathy. Although liver transplantation corrects thymidine phosphorylase deficiency, intestinal deficiency of the enzyme persists. Retrospective chart review was carried out to obtain clinical, biochemical, and pathological details.
We present a case of liver and subsequent intestine transplant in a 28-year-old man with MNGIE syndrome with gastrointestinal dysmotility, inability to walk, leukoencephalopathy, ptosis, cachexia, and elevated serum thymidine. To halt progression of neurologic deficit, he first received a left-lobe partial liver transplantation. Although his motor deficit improved, gastrointestinal dysmotility persisted, requiring total parenteral nutrition. After exhaustive intestinal rehabilitation, he was listed for intestine transplantation. Two-and-half years after liver transplantation, he received an intestine transplant. At 4 years after LT and 20 months after the intestine transplant, he remains off parenteral nutrition and is slowly gaining weight.
This is the first reported case of mitochondrial neurogastrointestinal encephalomyopathy to undergo successful sequential liver and intestine transplantation.

Keywords: Liver Transplantation; Parenteral Nutrition, Total; Thymidine Phosphorylase; Transplantation; Visceral Myopathy Familial External Ophthalmoplegia

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Annals of Transplantation eISSN: 2329-0358
Annals of Transplantation eISSN: 2329-0358