Diagnosis of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes
10.3760/cma.j.issn.1006-7876.2010.11.007
- VernacularTitle:线粒体脑肌病伴高乳酸血症和卒中样发作的诊断
- Author:
Yanping WEI
;
Yupu GUO
;
Lin CHEN
;
Liying CUI
;
Haitao REN
;
Yanhuan ZHAO
- Publication Type:Journal Article
- Keywords:
MELAS syndrome;
Magnetic resonance imaging;
Biopsy
- From:
Chinese Journal of Neurology
2010;43(11):765-769
- CountryChina
- Language:Chinese
-
Abstract:
Objective The clinical,laboratory,and neuroradiologic features of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) were analyzed and early clinical diagnosis was proposed.Method The various presentations of 34 MELAS patients were summarized to identify the specific symptoms and signs.The appropriate interpretation of the ancillary examinations,including lactic acid levels of blood and cerebral spinal fluid,neuroradiology,muscle biopsy and genetic test,was emphasized.the diagnostic significance and limitations of clinical,laboratory and neuroradiologic features were pointed out.Result The most common clinical presentations were listed in order of frequency:seizures,headache,mental decline,stroke-like episode,development abnormality,muscle weakness,fatigue,and ophthalmoplegia.Raised fasting or post-exercise blood lactic acid levels were found in 23 patients (67.6%).The most common lesions were located in the occipital lobe,parietal lobe,temporal lobe,basal ganglion,frontal lobe,cerebellum and deep white matter of 32 patients.Ragged red fibers were found in 24 patients (75%),and 8 other patients had negative muscle biopsy.Fourteen patients underwent genetic test,of which 9 patients had point mutation at 3243.Conclusion It is feasible to have early recognition of the various presentations of MELAS and make an early diagnosis even before the stroke like episodes.
