title: Chronic progressive external ophthalmoplegia with inflammatory myopathy.
abstract: Chronic progressive external ophthalmoplegia is one of mitochondrial disorders, characterized by ptosis, limitation of eye movement, variably severe bulbar muscle weakness and proximal limb weakness. Chronic progressive external ophthalmoplegia complicated with acquired disease is extremely rare. We report a 44 years old male patient with more than 20 years of chronic progressive bilateral ptosis and limitation of eye movements manifested dysarthria, dysphagia and neck muscle weakness for 3 years. The first muscle biopsy showed red-ragged fibers and cytochrome c oxidase negative fibers as well as inflammatory cells infiltration. Electron microscopy revealed paracrystalline inclusions. Mitochondrial genetic analysis demonstrated a large-scale mtDNA deletion of m.8470_13446del4977. The patient was treated with prednisone. In a three-year follow-up study, the second biopsy was performed. Before the treatment, except bilateral ptosis and external ophthalmopelgia, this patient presented bulbar muscle weakness and neck muscle weakness. After treated with prednisone, the symptoms of dysphagia, dysarthria and neck muscle weakness were significantly improved, and the second biopsy showed only mitochondrial myopathy pathology but the inflammations disappeared. Here, we report a patient with chronic progressive external ophthalmoplegia complicated with inflammatory myopathy and after treated with prednisone as myositis, he had a significant therapeutic effect.
authors: Department of Neurology, Chinese PLA General Hospital 28 Fu Xing Road, Beijing 100853, China ; School of medicine, Nankai University 94 Weijing Road, Tianjin 300071, China.
authors: Ting
authors: T
authors: Chen
authors: Department of Neurology, Chinese PLA General Hospital 28 Fu Xing Road, Beijing 100853, China ; School of medicine, Nankai University 94 Weijing Road, Tianjin 300071, China.
authors: Chuanqiang
authors: C
authors: Pu
authors: Department of Neurology, Chinese PLA General Hospital 28 Fu Xing Road, Beijing 100853, China.
authors: Qiang
authors: Q
authors: Shi
authors: Department of Emergency, Chinese Armed Police General Hospital 69 YongDing Road, Beijing 100039, China.
authors: Qian
authors: Q
authors: Wang
authors: Department of Neurology, Chinese PLA General Hospital 28 Fu Xing Road, Beijing 100853, China.
authors: Lu
authors: L
authors: Cong
authors: Department of Neurology, Chinese PLA General Hospital 28 Fu Xing Road, Beijing 100853, China.
authors: Jiexiao
authors: J
authors: Liu
authors: BGI-shenzhen Shenzhen 518083, China.
authors: Hongyu
authors: H
authors: Luo
authors: BGI-shenzhen Shenzhen 518083, China.
authors: Lingna
authors: L
authors: Fei
authors: BGI-shenzhen Shenzhen 518083, China.
authors: Wei
authors: W
authors: Tang
authors: BGI-shenzhen Shenzhen 518083, China.
authors: Shanshan
authors: S
authors: Yu
mesh_terms: D000328:Adult; D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D006801:Humans; D008297:Male; D009220:Myositis / Q000150:complications* / Q000188:drug therapy / Q000473:pathology; D017246:Ophthalmoplegia, Chronic Progressive External / Q000150:complications* / Q000235:genetics; D011241:Prednisone / Q000627:therapeutic use
chemical_list: D000893:Anti-Inflammatory Agents; D011241:Prednisone
keywords: Chronic progressive external ophthalmoplegia; inflammatory myopathy; mitochondrial DNA deletions