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Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: A new guise for an old disease.
Brain Dev 2019BD

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.

Authors+Show Affiliations

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), Department of Neuroradiology, Berlin, Germany.Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Department of Neuropathology, Berlin, Germany.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.Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Department of Neuropathology, Berlin, Germany.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.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.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31345444

Citation

Nikolaus, Marc, et al. "Fulminant Cerebral Venous Thrombosis Associated With the m.3243A>G MELAS Mutation: a New Guise for an Old Disease." Brain & Development, 2019.
Nikolaus M, Tietze A, Schweizer L, et al. Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: A new guise for an old disease. Brain Dev. 2019.
Nikolaus, M., Tietze, A., Schweizer, L., Kaindl, A. M., Stenzel, W., Schuelke, M., & Knierim, E. (2019). Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: A new guise for an old disease. Brain & Development, doi:10.1016/j.braindev.2019.07.002.
Nikolaus M, et al. Fulminant Cerebral Venous Thrombosis Associated With the m.3243A>G MELAS Mutation: a New Guise for an Old Disease. Brain Dev. 2019 Jul 22; PubMed PMID: 31345444.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fulminant cerebral venous thrombosis associated with the m.3243A>G MELAS mutation: A new guise for an old disease. AU - Nikolaus,Marc, AU - Tietze,Anna, AU - Schweizer,Leonille, AU - Kaindl,Angela M, AU - Stenzel,Werner, AU - Schuelke,Markus, AU - Knierim,Ellen, Y1 - 2019/07/22/ PY - 2019/03/11/received PY - 2019/06/05/revised PY - 2019/07/04/accepted PY - 2019/7/27/entrez KW - Autoimmunity KW - Cerebral venous thrombosis KW - Endothelial dysfunction KW - MELAS-syndrome KW - Mitochondrial angiopathy JF - Brain & development JO - Brain Dev. N2 - 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. SN - 1872-7131 UR - https://www.unboundmedicine.com/medline/citation/31345444/Fulminant_cerebral_venous_thrombosis_associated_with_the_m.3243A>G_MELAS_mutation:_A_new_guise_for_an_old_disease L2 - https://linkinghub.elsevier.com/retrieve/pii/S0387-7604(19)30166-4 DB - PRIME DP - Unbound Medicine ER -