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CASE REPORT article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1367716

Case report: Late-onset MELAS syndrome with mtDNA 5783G>A mutation diagnosed by urinary sediment genetic testing

Provisionally accepted
Hao Cai Hao Cai 1Li-Min Li Li-Min Li 2Miao Zhang Miao Zhang 1Yuying Zhou Yuying Zhou 1Pan Li Pan Li 1*
  • 1 Tianjin Neurosurgical Institute, Tianjin Huanhu Hospital, Tianjin, China
  • 2 Tianjin Medical University General Hospital, Tianjin, China

The final, formatted version of the article will be published soon.

    Background: Patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) usually present with multisystemic dysfunction with a wide range of clinical manifestations. When the tests for common mitochondrial DNA (mtDNA) point mutations are negative and the mtDNA defects hypothesis remains, urine epithelial cells can be used to screen the mitochondrial genome for unknown mutations to confirm the diagnosis.Case presentation: A 66-year-old Chinese woman presented with symptoms of MELAS and was initially misdiagnosed with acute encephalitis at another institution. Although genetic analysis of blood lymphocyte DNA was negative, brain imaging, including magnetic resonance imaging, magnetic resonance spectroscopy, and clinical and laboratory findings, were all suggestive of MELAS. Finally, the patient was eventually diagnosed with MELAS with the mtDNA 5783G>A mutation in the MT-TC gene with a urinary sediment genetic test.Conclusions: This case report expands the genetic repertoire associated with MELAS syndrome and highlights the importance that full mtDNA sequencing should be warranted beside the analysis of classical variants when a mitochondrial disorder is highly suspected. Furthermore, urine sediment genetic testing has played a crucial role in the diagnosis of MELAS.

    Keywords: MELAS, late-onset, MT-TC, m.5783G>A, Urinary sediment

    Received: 09 Jan 2024; Accepted: 09 May 2024.

    Copyright: © 2024 Cai, Li, Zhang, Zhou and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Pan Li, Tianjin Neurosurgical Institute, Tianjin Huanhu Hospital, Tianjin, China

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