A clinical and pathological analysis of 29 patients with mitochondrial disorders
10.3760/cma.j.issn.1671-8925.2013.11.017
- VernacularTitle:29例线粒体病患者临床及病理资料分析
- Author:
Tao-Ran JIN
1
;
Hong-Rui SHEN
;
Na LI
;
Zhe ZHAO
;
Qi BING
;
Nan LI
;
Jing HU
Author Information
1. 河北医科大学第三医院干部病房
- Keywords:
Mitochondrial disorder;
Skeletal muscle biopsy;
Ragged red fiber;
Pathology
- From:
Chinese Journal of Neuromedicine
2013;12(11):1160-1164
- CountryChina
- Language:Chinese
-
Abstract:
Objective To study the clinical and pathological features and pathogenesis of mitochondrial disorders (MIDs).Methods The clinical,laboratory,pathological and ultrastructure characteristics of 29 patients with MIDs,admitted to our hospital from 2005 to 2012,were analyzed.Results Main clinical manifestations of MIDs were exercise intolerance,amyosthenia,amyotrophy,external ophthalmoplegia and disturbance of intelligence,psychonosema,epilepsy and cerebral apoplexy;serum creatine kinase (CK) levels were normal or high; lactic acid levels were increased in many patients;myogenic or neurogenic changes/normals were showed by electromyograph examinations; part of them were with EEG abnormalities; MRI showed that encephalatrophy,myelinopathy and multifocal lesions not conforming to the distribution of major arteries existed.In muscle biopsy,plenty of ragged red fibers (RRF) scattered; the activity of cytochrome coxidase (COX) was decreased or absent in some fibers; in the succinodehydrogenase (SDH) stained small vessels,strong SDH-reactive blood vessels (SSV) was observed.Transmission electromicroscope analysis revealed that disordered mitochondria were markedly increased.Conclusions The clinical manifestations of MIDs are some diseases with multisystem disorders and their main symptoms include muscle and brain changes.Plenty of RRF scatter or SSV phenomenon is the main pathology.Skeletal muscle biopsy and pathological analysis are trustworthy methods for the definite diagnosis of MIDs; clinical manifestations often provide clews for typing and gene analysis.
