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

Marc Nikolaus; Anna Tietze; Leonille Schweizer; Angela M Kaindl; Werner Stenzel; Markus Schuelke; Ellen Knierim

doi:10.1016/j.braindev.2019.07.002

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.

Authors

Marc Nikolaus¹, Anna Tietze², Leonille Schweizer³, Angela M Kaindl⁴, Werner Stenzel³, Markus Schuelke⁵, Ellen Knierim⁶

Affiliations

¹ Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Department of Neuropediatrics, Berlin, Germany.
² Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Department of Neuroradiology, Berlin, Germany.
³ Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Department of Neuropathology, Berlin, Germany.
⁴ Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Department of Neuropediatrics, Berlin, Germany; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Sozialpädiatrisches Zentrum, Berlin, Germany; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Institute for Cell and Neurobiology, Berlin, Germany.
⁵ Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Department of Neuropediatrics, Berlin, Germany; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), NeuroCure Clinical Research Center, Berlin, Germany.
⁶ Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Department of Neuropediatrics, Berlin, Germany; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Sozialpädiatrisches Zentrum, Berlin, Germany; Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), NeuroCure Clinical Research Center, Berlin, Germany. Electronic address: ellen.knierim@charite.de.

PMID: 31345444
DOI: 10.1016/j.braindev.2019.07.002

Abstract

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*

Substances

DNA, Mitochondrial