多发性对称性脂肪瘤病和 MERRF：土耳其的一个病例

IF 0.2 4区医学 Q4 CLINICAL NEUROLOGY

Neurology Asia Pub Date : 2023-12-01 DOI:10.54029/2023npx

Sezin Alpaydın Baslo, Betül Tekin, Gokcen Gundogdu Unverengil, Mucahid Erdogan, Mahir Yusifov, D. Ataklı

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引用次数: 0

摘要

多发性对称性脂肪瘤病（MSL）与线粒体疾病的关联并不常见。我们报告了一名男性患者，他患有多发性脂肪瘤、听力损失、进行性四肢肌无力、神经病变和肌萎缩。血清肌酸激酶轻度升高。肌电图显示患者患有感觉性轴索多发性神经病和肌病，并伴有稀疏神经支配。肌肉活检显示出红色纤维。新一代DNA测序显示，MT-TK基因中存在一个m.8344A>G的异质突变。据我们所知，这是土耳其报告的第一例诊断为MSL和伴有锯齿状红色纤维的肌阵挛性癫痫（MERRF）的患者。

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Multiple symmetric lipomatosis and MERRF: A case from Turkey

The association of multiple symmetric lipomatosis (MSL) and mitochondrial disorders is not frequent. We report a male patient with multiple lipomas, hearing loss, progressive limb-girdle muscle weakness, neuropathy and myoclonia. Serum creatinine kinase was mildly elevated. Electromyography revealed sensory axonal polyneuropathy and myopathy with sparse denervation. A muscle biopsy showed ragged-red fibers. Next-generation DNA sequencing revealed a heteroplasmic m.8344A>G mutation in the MT-TK gene. To the best of our knowledge, this is the first patient to be reported from Turkey with a diagnosis of MSL and myoclonic epilepsy with ragged red fibers (MERRF).

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来源期刊

Neurology Asia CLINICAL NEUROLOGY-

CiteScore

0.30

自引率

0.00%

发文量

审稿时长

>0 weeks

期刊介绍： Neurology Asia (ISSN 1823-6138), previously known as Neurological Journal of South East Asia (ISSN 1394-780X), is the official journal of the ASEAN Neurological Association (ASNA), Asian & Oceanian Association of Neurology (AOAN), and the Asian & Oceanian Child Neurology Association. The primary purpose is to publish the results of study and research in neurology, with emphasis to neurological diseases occurring primarily in Asia, aspects of the diseases peculiar to Asia, and practices of neurology in Asia (Asian neurology).