Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. May 6, 2019; 7(9): 1066-1072
Published online May 6, 2019. doi: 10.12998/wjcc.v7.i9.1066
Adult-onset mitochondrial encephalopathy in association with the MT-ND3 T10158C mutation exhibits unique characteristics: A case report
Xiao-Li Fu, Xiang-Xue Zhou, Zhu Shi, Wei-Cheng Zheng
Xiao-Li Fu, Zhu Shi, Wei-Cheng Zheng, Department of Neurology, Dongguan Peoples’ Hospital, Dongguan 523059, Guangdong Province, China
Xiang-Xue Zhou, Department of Neurology, First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, Guangdong Province, China
Author contributions: Fu XL, Zhou XX, Shi Z, and Zheng WC contributed to the acquisition of data, and writing and revision of this manuscript.
Supported by the Socioeconomic Development Project of Dongguan Science and Technology Bureau, No. 2016108101002.
Informed consent statement: The patient and her family members provided written informed consent.
Conflict-of-interest statement: All the authors declare no conflict of interest with this publication.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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: Zhu Shi, MD, PhD, Director, Professor, Deputy Director, Department of Neurology, Dongguan People's Hospital, No. 2, Wandaolu South Avenue, Dongguan 523059, Guangdong Province, China. sound_shi@126.com
Telephone: +86-769-22679351 Fax: +86-769-2222235
Received: January 3, 2019
Peer-review started: January 4, 2019
First decision: January 26, 2019
Revised: February 21, 2019
Accepted: March 26, 2019
Article in press: March 26, 2019
Published online: May 6, 2019
Processing time: 123 Days and 6.9 Hours
Abstract
BACKGROUND

Mitochondrial diseases are a heterogenous group of multisystemic disorders caused by genetic mutations affecting mitochondrial oxidation function. Brain involvement is commonly found in most cases but rarely as the unique clinical manifestation. Since the knowledge of its clinical manifestation combined with genetic testing is important for preventing misdiagnosis and delay in treatment, we report here how we diagnosed and managed a very unusual case of mitochondrial encephalopathy.

CASE SUMMARY

We report a 52-year-old woman with recurrent stroke-like episodes carrying the m.10158T>C mutation in the MT-ND3 gene, which is also responsible for fatal infant-onset Leigh syndrome. Despite the common mutation, the present case featured a distinct clinical and neuroimaging manifestation from Leigh syndrome. This patient presented with sudden onset of right-sided hemiparesis and hemilateral sensory disturbance accompanied by a left temporal cluster-like headache and later developed epilepsy during hospitalization, with no other signs suggestive of myopathy, lactate acidosis, or other systemic symptoms. Brain magnetic resonance imaging revealed variable lesions involving multiple cortical and subcortical regions. Furthermore, a negative genetic test obtained from peripheral blood delayed the diagnosis of mitochondrial disease, which was eventually established through second-generation DNA sequencing using biopsied muscle.

CONCLUSION

Based on this report, we suggest that clinicians pursue proper genetic testing for patients when the clinical phenotype is suggestive of mitochondrial diseases.

Keywords: Mitochondrial disease; Stroke-like episode; Magnetic resonance; diagnosis; Case report

Core tip: An adult-onset stroke-like episode combined with a distinctive magnetic resonance imaging finding serves as a key diagnostic feature indicating mitochondrial disease. A negative peripheral blood genetic test does not necessarily exclude mitochondrial disease, and muscle biopsy is necessary, even with a lack of muscular symptoms.