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

Delia Gagliardi, Eleonora Mauri, Francesca Magri, Daniele Velardo, Megi Meneri, Elena Abati, Roberta Brusa, Irene Faravelli, Daniela Piga, Dario Ronchi, Fabio Triulzi, Lorenzo Peverelli, Monica Sciacco, Nereo Bresolin, Giacomo Pietro Comi, Stefania Corti, Alessandra Govoni

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Article number38
JournalFrontiers in Neurology
Issue numberJAN
Publication statusPublished - Jan 1 2019


  • Gastrointestinal disturbance
  • Intestinal pseudo-obstruction
  • Mitochondrial disorders
  • Stroke-like episodes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Can intestinal pseudo-obstruction drive recurrent stroke-like episodes in late-onset MELAS syndrome? A case report and review of the literature'. Together they form a unique fingerprint.

Cite this