{"title":"Multiple symmetric lipomatosis and MERRF: A case from Turkey","authors":"Sezin Alpaydın Baslo, Betül Tekin, Gokcen Gundogdu Unverengil, Mucahid Erdogan, Mahir Yusifov, D. Ataklı","doi":"10.54029/2023npx","DOIUrl":null,"url":null,"abstract":"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).","PeriodicalId":49757,"journal":{"name":"Neurology Asia","volume":"36 3-4","pages":""},"PeriodicalIF":0.2000,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurology Asia","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.54029/2023npx","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
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).
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).
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