The Combined Application Of Two Sets Of Diagnostic Criteria In 56 Patients With Suspected Mitochondrial Encephalomyopathy

Objective: due to genetic and clinical heterogeneity of mitochondrial diseases,it is difficult to be diagnosed rely on a single check,and easy to be misdiagnosed,misdiagnosis and delayed treatment.This study proposed by Morava's score sysytem combined with Yatsuga diagnostic criteria,to make early diagnosis of MELAS.Materials and methods: retrospective analysis of 56 cases of suspected patients with mitochondrial encephalomyopathy,on March 2009 to February 2017 in the First Affiliated Hospital of Fujian Medical University,analyzing its clinical characteristics,scored with Morava scoring system,then diagnosed the patient with score of 2 points or more by Yatsuga diagnosis standard.Analysis the rate of misdiagnosis and missed diagnosis of two diagnostic criteria.Results:1.In this study,age of patients have two peaks,one in 13-15 years old,one in 36-38 years old,most before the age of 40 years old.The incidence of disease in 1 day to 16 years,the average duration of 3.48±4.33 years.The first symptoms is stroke-like episode as the main,followed by seizures,the majority are neuromuscular system symptom.Most of patients are misdiagnosed viral encephalitis or Epilepsy cerebral infarction,some patients have been multiple misdiagnosed.2.The examination results: 1)stroke like lesions in the temporal parietal occipital lobe.2)45 cases detect blood lactic acid,38 patients with elevated blood lactate;25 cases detect cerebrospinal fluid lactic acid,16 cases of cerebrospinal fluid lactic acid increased;12cases of lactic acid test positive.3): 26 patients underwent electromyography EMG,12 cases of muscle injury,8 cases of neurogenic injury,the remaining 6 cases were neurogenic or myogenic damage.4)muscle biopsy: 15 cases showed abnormal pathological results,the majority were ragged red fibers.3.diagnostic results: 1)56 cases of patients with diagnosis of Morava's score sysytem,26 cases of "definitely diagnosed"(14 cases were diagnosed gene),17 cases "probably diagnosed"(4 cases diagnosed as gene),11 cases "possibly diagnosed"(all genes excluded),2 case "unlikely diagnosed"(all genes excluded).The misdiagnosis rate was0%,the diagnosis rate was 53.85%.2)54 patients whose score is 2 grade above treated by Yatsuga diagnostic criteria,19 cases were “confirmed diagnosed(17 cases were diagnosed gene),2 cases were"suspected diagnosed"(all genes excluded),33 cases were “exclusion”(including 1cases of gene diagnosis).The misdiagnosis rate was 3.03%,the rate of diagnosis was89.47%.3)The missed diagnosis rate of Morava's scoring system was 0% and Yatsuga diagnosis standard was 3.03%,greater than the Morava's scoring system;the diagnosis rate of Morava's score system was 53.85%,and Yatsuga diagnosis standard was 89.47%,higher than the Morava score system.The "diagnosis diagnosed" and "exclusion"between the scores were statistically significant(P<0.05).Both can be used together,reduce the rate of misdiagnosis,improve the diagnosis rate.4)Morava score in patients gene diagnosis and gene exclusion before biopsy(P<0.05)and total score(P<0.05)had significant difference,the application score system after the screening choice for gene detection,selection of muscle biopsy.Conclusion: 1)because the clinical heterogeneity,mitochondrial myopathy is easily misdiagnosed and missed diagnosed.2)the missed diagnosed rate of Morava scoring system is low,can improve the diagnostic sensitivity.Diagnosis rate of Yatsuga diagnostic criteria is high,can assist in the selection of genetic testing sites,improve the diagnostic specificity.A combination of the two,can improve the diagnosis the sensitivity and specificity of MELAS.