An ¡°inflammatory¡± mitochondrial myopathy. A case report
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- 作者：Michelangelo Mancuso ; Daniele Orsucci ; Elena Caldarazzo Ienco ; Giulia Ricci ; Greta Ali ; Adele Servadio ; Gabriella Fontanini ; Massimiliano Filosto ; Valentina Vielmi ; Anna Rocchi ; Lucia Petrozzi ; Annalisa LoGerfo ; Gabriele Siciliano
- 关键词：CPEO ; Inflammation ; IVIg ; mtDNA ; Respiratory failure
- 刊名：Neuromuscular Disorders
- 出版年：2013
- 出版时间：November, 2013
- 年：2013
- 卷：23
- 期：11
- 页码：907-910
- 全文大小：1080 K
文摘
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.