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.
journal_name
World J Clin Casesjournal_title
World journal of clinical casesauthors
Fu XL,Zhou XX,Shi Z,Zheng WCdoi
10.12998/wjcc.v7.i9.1066subject
Has Abstractpub_date
2019-05-06 00:00:00pages
1066-1072issue
9issn
2307-8960journal_volume
7pub_type
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journal_title:World journal of clinical cases
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journal_title:World journal of clinical cases
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journal_title:World journal of clinical cases
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journal_title:World journal of clinical cases
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journal_title:World journal of clinical cases
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journal_title:World journal of clinical cases
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journal_title:World journal of clinical cases
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journal_title:World journal of clinical cases
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journal_title:World journal of clinical cases
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pub_type: 杂志文章,评审
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更新日期:2020-08-06 00:00:00
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journal_title:World journal of clinical cases
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journal_title:World journal of clinical cases
pub_type: 杂志文章
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更新日期:2020-02-26 00:00:00
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journal_title:World journal of clinical cases
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pub_type: 杂志文章,评审
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更新日期:2014-10-16 00:00:00
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journal_title:World journal of clinical cases
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journal_title:World journal of clinical cases
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更新日期:2014-12-16 00:00:00
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更新日期:2020-08-26 00:00:00
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journal_title:World journal of clinical cases
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更新日期:2015-03-16 00:00:00