Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: A new guise for an old disease

Brain Dev. 2019 Nov;41(10):901-904. doi: 10.1016/j.braindev.2019.07.002. Epub 2019 Jul 22.


MELAS-syndrome (mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes) is a multisystem disorder with various presentations. Common clinical manifestations include stroke-like episodes, encephalopathy with seizures, muscle weakness, recurrent headaches and vomiting, hearing impairment, and short stature. Uncommon clinical presentations like cerebral venous thrombosis, which is almost unprecedented for MELAS-syndrome, impede correct diagnosis. We describe a novel presentation of MELAS-syndrome with severe cerebral venous thrombosis (CVT) and inflammation with a vasculopathy that affects the venous system as well. This case does not only extend the clinical spectrum of a multifaceted disease, but offers new clues for the pathomechanism of MELAS-syndrome.

Keywords: Autoimmunity; Cerebral venous thrombosis; Endothelial dysfunction; MELAS-syndrome; Mitochondrial angiopathy.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cerebral Veins
  • DNA, Mitochondrial / genetics*
  • Female
  • Humans
  • MELAS Syndrome / diagnosis
  • MELAS Syndrome / genetics*
  • Mitochondrial Myopathies
  • Mutation / genetics
  • Venous Thrombosis / genetics*


  • DNA, Mitochondrial