Mitochondrial myopathy,encephalopathy,lactic acidosis and stroke-like episodes:clinical manifestations and gene mutation analysis
10.3760/cma.j.issn.1671-8925.2009.09.019
- VernacularTitle:线粒体脑肌病伴有高乳酸血症和卒中样发作综合征的临床及基因突变分析
- Author:
Han LIN
1
;
Xing-Wang SONG
;
Yong-Hong YI
;
Xue-Fen LU
;
Wei-Ping LIAO
Author Information
1. 广东医学院附属厚街医院
- Keywords:
MELAS syndrome;
Gene mutation;
Gene diagosis
- From:
Chinese Journal of Neuromedicine
2009;8(9):932-935
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the characteristic clinical manifestations and gene mutations in mitochondrial myopathy,encephalopathy,lactic acidosis and stroke-like episodes(MELAS).Methods The clinical manifestations,imaging data and muscle pathologies of a patient with MELASwere analyzed,and the mutations in the mitochondrial DNA were investigated using polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)and gene sequencing.Results MELAS was clinically characterized by such symptoms as recurrent headache and vomiting,stroke-like episodes,epilepsy,intolerance to exercise,short stature,nerve deafness and lactic acidosis.CT scan demonstrated bilateral basal ganglia calcification,and magnetic resonance imaging(MRI)showed abnormal signals in the occipital lobe.Proton magnetic resonance spectroscopy revealed a visible peak of lactic acid in the area with T2-weighted abnormal signals,while a low peak of lactic acid was identified in the area with T2-weighted normal signals.Muscle biopsy did not find any mitochondrial anomalies.A heterozygous A 3243G mutation in the mitochondrial DNA was found in this patient.Conclusion The diagnosis of MELAS relies on a comprehensive analysis of the clinical features,imaging findings,pathological results and genetic analysis.Normal pathological results do not rule out the possibility of MELAS.Mitochondrial DNA mutation analysis should be carried out as a routine procedure for identifying MELAS.
