Letter To The Editor
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jan 6, 2020; 8(1): 242-244
Published online Jan 6, 2020. doi: 10.12998/wjcc.v8.i1.242
Cluster headache as a manifestation of a stroke-like episode in a carrier of the MT-ND3 variant m.10158T>C
Josef Finsterer
Josef Finsterer, Neurological Department, Messerli Institute, Vienna 1180, Austria
Author contributions: Finsterer J performed research, literature search, discussion, first draft, critical comments.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Josef Finsterer, MD, PhD, Attending Doctor, Neurological Department, Messerli Institute, Danube Univ Krems, Postfach 20, Vienna 1180, Austria. fifigs1@yahoo.de
Received: August 30, 2019
Peer-review started: August 30, 2019
First decision: December 12, 2019
Revised: December 19, 2019
Accepted: December 22, 2019
Article in press: December 22, 2019
Published online: January 6, 2020
Processing time: 129 Days and 2 Hours
Abstract

In a recent article Fu et al reported about a 52 years old female with a mitochondrial disorder due to the variant m.10158T>C in the mtDNA located gene MT-ND3. The study has a number of shortcomings. The study would particularly profit from providing more data about multisystem disease, from providing the current medication, the cerebro-spinal fluid findings, the detailed phenotypic presentation, and the genotype of first-degree relatives. Since the index patient had experienced recurrent seizures it is crucial to know the current and previous anti-seizure medication as it may strongly determine the outcome. Some of them are mitochondrion-toxic and particularly valproic acid may exhibit fatal side effects. The outcome may also depend on the degree of multisystem involvement why it is crucial to prospectively investigate the patient for subclinical involvement of organs not obviously affected. Additionally, the outcome of the stroke-like lesions on imaging would be interesting to see. Stroke-like lesions may completely disappear or may end up as white matter lesion, laminar cortical necrosis, focal atrophy, cyst, or as the so-called toenail sign. There is also a need of discussing more profoundly the imaging findings and their diagnostic significance and to investigate first degree relatives of the index patient clinically and genetically. Though highly interesting, the presentation of this case of a mitochondrial disorder lacks clinical and genetic data of the patient and his relatives. Outcome parameters, such as severity of disease, degree of progression, drugs, pathogenicity of the mutation, and multisystem involvement require a profound discussion.

Keywords: Heteroplasmy; mtDNA; Oxidative phosphorylation; Stroke-like episode

Core tip: The recent report about a 52 years old female with a mitochondrial disorder due to the variant m.10158T>C in MT-ND3 may profit from a more thorough investigation of the index case and his relatives. Outcome parameters, such as severity of disease, degree of progression, drugs, pathogenicity of the mutation, and multisystem involvement need to be assessed to guide treatment and genetic counselling.