Multiple symmetric lipomatosis and MERRF: A case from Turkey

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).