An “inflammatory” mitochondrial myopathy. A case report

• Published in: Neuromuscular disorders : NMD 2013-11, Vol.23 (11), p.907-910
• Main Authors: Mancuso, Michelangelo, Orsucci, Daniele, Ienco, Elena Caldarazzo, Ricci, Giulia, Ali, Greta, Servadio, Adele, Fontanini, Gabriella, Filosto, Massimiliano, Vielmi, Valentina, Rocchi, Anna, Petrozzi, Lucia, LoGerfo, Annalisa, Siciliano, Gabriele
• Format: Article
• Language: English
• Subjects: CPEO; Genes, Mitochondrial; Humans; Inflammation; IVIg; Male; Middle Aged; Mitochondrial Myopathies - complications; Mitochondrial Myopathies - genetics; Mitochondrial Myopathies - pathology; mtDNA; Mutation; Myositis - pathology; Neurology; Quadriceps Muscle - pathology; Respiratory failure; Respiratory Insufficiency - etiology
• ISSN: 0960-8966; 1873-2364
• DOI: 10.1016/j.nmd.2013.07.011

Abstract We describe a case of an adult male patient with progressive external ophthalmoplegia and upper limb weakness, who presented with an episode of sudden respiratory failure. Muscle biopsy showed ragged-red and COX-negative fibers associated with discrete inflammatory infiltrates and necrotizing features. Apart from artificial ventilator support, he was treated with intravenous immunoglobulins and carnitine, with excellent clinical outcome. Mitochondrial DNA analysis revealed the 3251A > G mutation, previously reported in association with rapidly progressive mitochondrial myopathy and respiratory failure. Our case expands the spectrum of this mutation and suggests a therapeutic attempt with immunoglobulins in mitochondrial patients with acute respiratory failure, at least when this mutation and/or muscle inflammation is present. Moreover, this case supports the idea of a pathologic inflammatory response induced by mitochondrial disease; such an abnormal response may be a contributory factor in disease progression or acute exacerbation typical of some mitochondrial diseases, but further studies are needed.