Multiple symmetric lipomatosis and MERRF: A case from Turkey
Neurology Asia, cilt.28, sa.4, ss.1095-1099, 2023 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 28 Sayı: 4
- Basım Tarihi: 2023
- Doi Numarası: 10.54029/2023npx
- Dergi Adı: Neurology Asia
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier
- Sayfa Sayıları: ss.1095-1099
- Anahtar Kelimeler: lipomatosis, MERRF, mitochondrial disorder, myopathy, MT-TK
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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).