Authors
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Sezin Alpaydin Baslo
University of Health Sciences, Bakirkoy Prof. Dr. Mazhar Osman Training and Research Hospital for Psychiatric, Neurologic, and Neurosurgical Diseases, Department of Neurology, Istanbul, Turkey
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Betul Tekin
University of Health Sciences, Bakirkoy Prof. Dr. Mazhar Osman Training and Research Hospital for Psychiatric, Neurologic, and Neurosurgical Diseases, Department of Neurology, Istanbul, Turkey
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Gokcen Gundogdu Unverengil
Istanbul University, Istanbul Faculty of Medicine, Department of Pathology, Istanbul, Turkey
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Mucahid Erdogan
University of Health Sciences, Bakirkoy Prof. Dr. Mazhar Osman Training and Research Hospital for Psychiatric, Neurologic, and Neurosurgical Diseases, Department of Neurology, Istanbul, Turkey
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Mahir Yusifov
University of Health Sciences, Bakirkoy Prof. Dr. Mazhar Osman Training and Research Hospital for Psychiatric, Neurologic, and Neurosurgical Diseases, Department of Neurology, Istanbul, Turkey
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Dilek Atakli
University of Health Sciences, Bakirkoy Prof. Dr. Mazhar Osman Training and Research Hospital for Psychiatric, Neurologic, and Neurosurgical Diseases, Department of Neurology, Istanbul, Turkey
Keywords:
lipomatosis, MERRF, mitochondrial disorder, myopathy, MT-TK
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).
