Have one's view of the important overshadowed by the trivial: chronic progressive external ophthalmoplegia combined with unilateral facial nerve injury: a case report and literature review

Ziyang Feng; Rui Lai; Jia Wei; Xuan Liu; Xueqin Chen; Yangsicheng Liu; Wenxin Qin; Xiude Qin; Fanxin Kong

doi:10.3389/fneur.2023.1268053

Have one's view of the important overshadowed by the trivial: chronic progressive external ophthalmoplegia combined with unilateral facial nerve injury: a case report and literature review

Front Neurol. 2024 Jan 5:14:1268053. doi: 10.3389/fneur.2023.1268053. eCollection 2023.

Authors

Ziyang Feng^#¹, Rui Lai^#², Jia Wei^{1

3}, Xuan Liu^{1

3}, Xueqin Chen^{1

3}, Yangsicheng Liu¹, Wenxin Qin¹, Xiude Qin^{1

3}, Fanxin Kong^{1

3}

Affiliations

¹ The Fourth Clinical Medical College, Guangzhou University of Chinese Medicine, Shenzhen, China.
² School of Acupuncture and Tuina, Chengdu University of Traditional Chinese Medicine, Chengdu, China.
³ Department of Encephalopathy and Psychology, Shenzhen Traditional Chinese Medicine Hospital, Shenzhen, China.

^# Contributed equally.

Abstract

Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial encephalomyopathy that is characterized by progressive ptosis and impaired ocular motility. Owing to its nonspecific clinical manifestations, CPEO is often misdiagnosed as other conditions. Herein, we present the case of a 34-year-old woman who primarily presented with incomplete left eyelid closure and limited bilateral eye movements. During the 6-year disease course, she was diagnosed with myasthenia gravis and cranial polyneuritis. Finally, skeletal muscle tissue biopsy confirmed the diagnosis. Biopsy revealed pathological changes in mitochondrial myopathy. Furthermore, mitochondrial gene testing of the skeletal muscle revealed a single chrmM:8469-13447 deletion. In addition, we summarized the findings of 26 patients with CPEO/Kearns-Sayre syndrome who were misdiagnosed with other diseases owing to ocular symptoms. In conclusion, we reported a rare clinical case and emphasized the symptomatic diversity of CPEO. Furthermore, we provided a brief review of the diagnosis and differential diagnosis of the disease.

Keywords: case report; chronic progressive external ophthalmoplegia; genetic testing; misdiagnosis; muscle biopsy.

Publication types

Case Reports

Grants and funding

The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This work was supported by the Sanming Project of Medicine in Shenzhen (grant number SZZYSM202111011), Traditional Chinese Medicine Bureau of Guangdong Province (grant number 20221357), and 3030 project of Clinical Research Program in Shenzhen Traditional Chinese Medicine Hospital in 2021 (grant number G3030202132).