A patient with MELAS syndrome combined with autoimmune abnormalities: a case report
BackgroundMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a group of maternally inherited disorders caused by mutations or deletions in mitochondrial genes with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes as the main clinical ma...
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Frontiers Media S.A.
2023-08-01
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2023.1239664/full |
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| author | Mingmin Zhao Mingmin Zhao Chun Zuo Chun Zuo Hongyu Hao Hongyu Hao Xing Xing Xing Xing Lei Zhao Lei Zhao Na Li Na Li |
| author_facet | Mingmin Zhao Mingmin Zhao Chun Zuo Chun Zuo Hongyu Hao Hongyu Hao Xing Xing Xing Xing Lei Zhao Lei Zhao Na Li Na Li |
| author_sort | Mingmin Zhao |
| collection | DOAJ |
| description | BackgroundMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a group of maternally inherited disorders caused by mutations or deletions in mitochondrial genes with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes as the main clinical manifestations.Case presentationWe reported a 20-year-old female patient with MELAS syndrome combined with autoimmune abnormalities. She suffered from an intermittent headache in the right temporal region with no obvious cause, and then, after strenuous exercise in dance class, the headache became aggravated, accompanied by unresponsiveness, blurred vision, and diplopia. Her blood lactate levels were elevated, her antinuclear antibodies were positive, and the antimetabolic glutamate receptors 5 in her serum were positive. Brain DWI showed a hypertensive signal in the right temporo-parietal-occipital cortex and subcortical area. Brain MRS showed decreased NAA peak and increased Lac peak. Muscle biopsy showed myogenic damage, and the modified Gomori trichrome (MGT) staining showed ragged red fibers (RRF). A genetic study revealed a mitochondrial DNA A3243G mutation.ConclusionMitochondrial encephalomyopathy is a rare clinical condition; however, the association with autoimmune diseases is not yet clear and still needs further research and analysis. |
| first_indexed | 2024-03-12T13:30:01Z |
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| id | doaj.art-fe11ff92b25a4fa89f1ad13d8b0f9698 |
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| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-03-12T13:30:01Z |
| publishDate | 2023-08-01 |
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| series | Frontiers in Neurology |
| spelling | doaj.art-fe11ff92b25a4fa89f1ad13d8b0f96982023-08-24T21:39:34ZengFrontiers Media S.A.Frontiers in Neurology1664-22952023-08-011410.3389/fneur.2023.12396641239664A patient with MELAS syndrome combined with autoimmune abnormalities: a case reportMingmin Zhao0Mingmin Zhao1Chun Zuo2Chun Zuo3Hongyu Hao4Hongyu Hao5Xing Xing6Xing Xing7Lei Zhao8Lei Zhao9Na Li10Na Li11Graduate School of Hebei North University, Zhangjiakou, Hebei, ChinaNeurological Intensive Care Unit, Hebei General Hospital, Shijiazhuang, Hebei, ChinaGraduate School of Hebei North University, Zhangjiakou, Hebei, ChinaNeurological Intensive Care Unit, Hebei General Hospital, Shijiazhuang, Hebei, ChinaNeurological Intensive Care Unit, Hebei General Hospital, Shijiazhuang, Hebei, ChinaHebei Provincial Key Laboratory of Cerebral Networks and Cognitive Disorders, Shijiazhuang, Hebei, ChinaNeurological Intensive Care Unit, Hebei General Hospital, Shijiazhuang, Hebei, ChinaHebei Provincial Key Laboratory of Cerebral Networks and Cognitive Disorders, Shijiazhuang, Hebei, ChinaNeurological Intensive Care Unit, Hebei General Hospital, Shijiazhuang, Hebei, ChinaHebei Provincial Key Laboratory of Cerebral Networks and Cognitive Disorders, Shijiazhuang, Hebei, ChinaNeurological Intensive Care Unit, Hebei General Hospital, Shijiazhuang, Hebei, ChinaHebei Provincial Key Laboratory of Cerebral Networks and Cognitive Disorders, Shijiazhuang, Hebei, ChinaBackgroundMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a group of maternally inherited disorders caused by mutations or deletions in mitochondrial genes with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes as the main clinical manifestations.Case presentationWe reported a 20-year-old female patient with MELAS syndrome combined with autoimmune abnormalities. She suffered from an intermittent headache in the right temporal region with no obvious cause, and then, after strenuous exercise in dance class, the headache became aggravated, accompanied by unresponsiveness, blurred vision, and diplopia. Her blood lactate levels were elevated, her antinuclear antibodies were positive, and the antimetabolic glutamate receptors 5 in her serum were positive. Brain DWI showed a hypertensive signal in the right temporo-parietal-occipital cortex and subcortical area. Brain MRS showed decreased NAA peak and increased Lac peak. Muscle biopsy showed myogenic damage, and the modified Gomori trichrome (MGT) staining showed ragged red fibers (RRF). A genetic study revealed a mitochondrial DNA A3243G mutation.ConclusionMitochondrial encephalomyopathy is a rare clinical condition; however, the association with autoimmune diseases is not yet clear and still needs further research and analysis.https://www.frontiersin.org/articles/10.3389/fneur.2023.1239664/fullMELASmitochondrial encephalomyopathyautoimmune abnormalitiesantinuclear antibodies (ANA)antimetabolic glutamate receptor 5 encephalitis |
| spellingShingle | Mingmin Zhao Mingmin Zhao Chun Zuo Chun Zuo Hongyu Hao Hongyu Hao Xing Xing Xing Xing Lei Zhao Lei Zhao Na Li Na Li A patient with MELAS syndrome combined with autoimmune abnormalities: a case report Frontiers in Neurology MELAS mitochondrial encephalomyopathy autoimmune abnormalities antinuclear antibodies (ANA) antimetabolic glutamate receptor 5 encephalitis |
| title | A patient with MELAS syndrome combined with autoimmune abnormalities: a case report |
| title_full | A patient with MELAS syndrome combined with autoimmune abnormalities: a case report |
| title_fullStr | A patient with MELAS syndrome combined with autoimmune abnormalities: a case report |
| title_full_unstemmed | A patient with MELAS syndrome combined with autoimmune abnormalities: a case report |
| title_short | A patient with MELAS syndrome combined with autoimmune abnormalities: a case report |
| title_sort | patient with melas syndrome combined with autoimmune abnormalities a case report |
| topic | MELAS mitochondrial encephalomyopathy autoimmune abnormalities antinuclear antibodies (ANA) antimetabolic glutamate receptor 5 encephalitis |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2023.1239664/full |
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