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: Ting Chen, Chuanqiang Pu, Qiang Shi, Qian Wang, Lu Cong, Jiexiao Liu, Hongyu Luo, Lingna Fei, Wei Tang, Shanshan Yu
• Journal: International journal of clinical and experimental pathology (Int J Clin Exp Pathol) Vol. 7 Issue 12 Pg. 8887-92 ( 2014) ISSN: 1936-2625 [Electronic] United States
• PMID: 25674260 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Anti-Inflammatory Agents
• Prednisone

Topics

• Adult
• Anti-Inflammatory Agents (therapeutic use)
• Humans
• Male
• Myositis (complications, drug therapy, pathology)
• Ophthalmoplegia, Chronic Progressive External (complications, genetics)
• Prednisone (therapeutic use)