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Front. Neurol. | doi: 10.3389/fneur.2019.00038

Can intestinal pseudo-obstruction drive recurrent stroke-like episodes in late-onset MELAS syndrome? A case report and review of the literature.

 Delia Gagliardi1,  Eleonora Mauri1, Francesca Magri1, Daniele Velardo2, Megi Meneri2,  Elena Abati1, Roberta Brusa1, Irene Faravelli1,  Daniela Piga2, Dario Ronchi1, Fabio Triulzi3, Lorenzo Peverelli4, Monica Sciacco4,  Nereo Bresolin1, 2, Giacomo P. Comi1, 2,  Stefania Corti1, 2, 5* and  Alessandra Govoni2, 5*
  • 1Centro Dino Ferrari, Italy
  • 2Department of Neurology, IRCCS Ca 'Granda Foundation Maggiore Policlinico Hospital, Italy
  • 3Department of Neuroradiology, IRCCS Ca 'Granda Foundation Ospedale Maggiore Policlinico (IRCCS), Italy
  • 4Neuromuscular and Rare Disease Unit, Department of Neurology, IRCCS Ca 'Granda Foundation Maggiore Policlinico Hospital, Italy
  • 5Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Italy

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a maternally inherited mitochondrial disorder that is most commonly caused by the m.3243A>G mutation in the MT-TL1 mitochondrial DNA gene, resulting in impairment of mitochondrial energy metabolism. Although childhood is the typical age of onset, a small fraction (1-6%) of individuals manifest the disease after 40 years of age and usually have a less aggressive disease course. The clinical manifestations are variable and mainly depend on the degree of heteroplasmy in the patient’s tissues and organs. They include muscle weakness, diabetes, lactic acidemia, gastrointestinal disturbances and stroke-like episodes, which are the most commonly observed symptom. We describe the case of a 50-year-old male patient who presented with relapsing intestinal pseudo-obstruction (IPO) episodes, which led to a late diagnosis of MELAS. After diagnosis, he presented several stroke-like episodes in a short time period and developed a rapidly progressive cognitive decline, which unfortunately resulted in his death.
We describe the variable clinical manifestations of MELAS syndrome in this atypical and relatively old patient, with a focus on paralytic ileus and stroke-like episodes; the first symptom may have driven the others, leading to a relentless decline. Moreover, we provide a brief revision of previous reports of IPO occurrence in MELAS patients with the m.3243A>G mutation, and we investigate its relationship with stroke-like episodes. Our findings underscore the importance of recognizing gastrointestinal disturbance to prevent neurological comorbidities.

Keywords: MELAS, mitochondrial disorders, Intestinal pseudo obstruction, Stroke-like episodes, Gastrointestinal disturbance

Received: 13 Nov 2018; Accepted: 11 Jan 2019.

Edited by:

Clara Van Karnebeek, University Medical Center Amsterdam, Netherlands

Reviewed by:

Curtis R. Coughlin II, School of Medicine, University of Colorado, United States
Ramona Salvarinova, Division of Biochemical Diseases, British Columbia Children's Hospital, Canada  

Copyright: © 2019 Gagliardi, Mauri, Magri, Velardo, Meneri, Abati, Brusa, Faravelli, Piga, Ronchi, Triulzi, Peverelli, Sciacco, Bresolin, Comi, Corti and Govoni. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence:
MD, PhD. Stefania Corti, Centro Dino Ferrari, Milan, Italy, stefania.corti@unimi.it
MD. Alessandra Govoni, Department of Neurology, IRCCS Ca 'Granda Foundation Maggiore Policlinico Hospital, Milan, Italy, alessandra.govoni@policlinico.mi.it