A case of mitochondrial myopathy and chronic progressive external ophthalmoplegia
10.11817/j.issn.1672-7347.2023.220605
- VernacularTitle:线粒体肌病合并慢性进行性眼外肌麻痹1例
- Author:
Haokun LIU
1
;
Ming GAO
;
Qiying SUN
;
Si CHEN
;
Yuebei LUO
;
Huan YANG
;
Qiuxiang LI
;
Jing LI
;
Guang YANG
Author Information
1. 中南大学湘雅医院神经内科,长沙 410008
- Keywords:
mitochondrial myopathy;
blepharoptosis;
mitochondrial DNA;
nuclear DNA;
histopathologic examination
- From:
Journal of Central South University(Medical Sciences)
2023;48(11):1760-1768
- CountryChina
- Language:Chinese
-
Abstract:
Mitochondrial myopathy is a group of multi-system diseases in which mitochondrial DNA(mtDNA)or nuclear DNA(nDNA)defects lead to structural and functional dysfunction of mitochondria.The clinical manifestations of mitochondrial myopathy are complex and varied,and the testing for mtDNA and nDNA is not widely available,so misdiagnosis or missed diagnosis is common.Chronic progressive external ophthalmoplegia(CPEO)is a common type of mitochondrial myopathy,which is characterized by blepharoptosis.Here we report a 38-year-old female with mitochondrial myopathy presented with chronic numbness and weakness of the limbs,accompanied by blepharoptosis that was recently noticed.Laboratory and head magnetic resonance imaging(MRI)examinations showed no obvious abnormalities.Muscle and nerve biopsies showed characteristic ragged red fibers(RRFs)and large aggregates of denatured mitochondria.Testing for mtDNA and nDNA showed a known mutation c.2857C＞T(p.R953C)and a novel variant c.2391G＞C(p.M797I)in the polymerase gamma(POLG)gene,so the patient was diagnosed as mitochondrial myopathy.Clinicians should pay more attention to long-term unexplained skeletal muscle diseases with recent onset blepharoptosis.Histopathologic examination and genetic testing are of great value in the early diagnosis and therapeutic intervention.
