Clinical and pathological features of chronic progressive external ophthalmoplegia
- VernacularTitle:慢性进行性眼外肌瘫痪的临床和病理学特点
- Author:
Qi BING
;
Jing HU
;
Na LI
- Publication Type:Journal Article
- Keywords:
chronic progressive external ophthalmoplegia;
skeletal muscular pathology;
mitochondria myopathy
- From:
Journal of Clinical Neurology
1993;0(03):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical and skeletal muscular pathological features of chronic progressive external ophthalmoplegia(CPEO).Methods The clinical and skeletal muscular pathological data of 6 patients with CPEO were analyzed retrospectively.Results All of the 6 patients onset were 4 to 18 years old.The first symptom was blepharoptosis.The clinical mainly manifestations were limited activity of eyeball,accompanied with limbs muscle fatigue,weakness and level elevatation of serum creatine kinase(CK).5 cases had myogenic changes in electromyography(EMG).The skeletal muscular pathological examination showed that the ragged red fibers(RRF)were scattered among the muscle fibers,and the deficient or absent of COX activity in many fibers.A few degenerating and necrotic fibers were observed in 4 cases.Lipid-drops were increased by oil red "O" stain in 3 cases.Electromicroscope showed that abnormal mitochondria increased in number and aggregated under sarcolemma or in cytoplasm.Crystalloid inclusion body could be observed.Conclusions The clinical mainly features of CPEO are external ophthalmoplegia and accompanied with limbs weakness.RRF and COX activity deficiency or absence according to skeletal muscle pathology can be suggest and support the diagnosis of CPEO.Gene sequencing based on skeletal muscle biopsy is necessary to make the final diagnosis of CPEO.
