Liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications

Roberto D’Angelo, Elisa Boschetti, Giulia Amore, Roberta Costa, Alessia Pugliese, Leonardo Caporali, Laura Ludovica Gramegna, Valentina Papa, Luca Vizioli, Mariantonietta Capristo, Manuela Contin, Susan Mohamed, Giovanna Cenacchi, Raffaele Lodi, Maria Cristina Morelli, Luca Fasano, Lara Pisani, Matteo Cescon, Caterina Tonon, Antonio Daniele PinnaMaria Teresa Dotti, Francesco Sicurelli, Mauro Scarpelli, Massimiliano Filosto, Carlo Casali, Loris Pironi, Valerio Carelli, Roberto De Giorgio, Rita Rinaldi

Research output: Contribution to journalArticlepeer-review

Abstract

We report the longest follow-up of clinical and biochemical features of two previously reported adult mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) patients treated with liver transplantation (LT), adding information on a third, recently transplanted, patient. All three patients overcame the early post-operative period and tolerated immunosuppressive therapy. Plasma nucleoside levels dramatically decreased, with evidence of clinical improvement of ambulation and neuropathy. Conversely, other features of MNGIE, as gastrointestinal dysmotility, low weight, ophthalmoparesis, and leukoencephalopathy were essentially unchanged. A similar picture characterized two patients treated with allogenic hematopoietic stem cell transplantation (AHSCT). In conclusion, LT promptly and stably normalizes nucleoside imbalance in MNGIE, stabilizing or improving some clinical parameters with marginal periprocedural mortality rate as compared to AHSCT. Nevertheless, restoring thymidine phosphorylase (TP) activity, achieved by both LT and AHSCT, does not allow a full clinical recovery, probably due to consolidated cellular damage and/or incomplete enzymatic tissue replacement.

Original languageEnglish
Pages (from-to)3702-3710
Number of pages9
JournalJournal of Neurology
Volume267
Issue number12
DOIs
Publication statusPublished - Dec 2020

Keywords

  • Allogenic hematopoietic stem cell transplantation
  • Liver transplantation
  • Mitochondrial neurogastrointestinal encephalomyopathy
  • Thymidine phosphorylase

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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