Clinical Study Of Mitochondrial Encephalomyopathies MELAS In Children

Objective To retrospectively analyze the clinical course, diagnosis, treatment and disease evaluation(Using NPMDS) for5children suffering from mitochondrial ephalopathy lactic acidosis and strokelike episodes (MELAS) and review some related literatures. Methods Cases of5MELAS children were collected in the Haikou People’s Hospital in from2006October to2013October and retrospectively analyzed the clinical manifestation, laboratory examination, imaging, pathology, treatment and evaluation. The diagnosis of MELAS include the general laboratory examination, pathological examination, molecular genetics examination. All the diagnosed children were treated by cocktail, general symptomatic treatment and emergency treatment to stable conditions. Newcastle pediatric mitochondrial disease scale was used to evaluate clinical conditions for some children. The related cases were tetrievaled through the Wanfang database and Pubmed database and were analyzed to gain information. Results Of the5MELAS children, two were male and three were female. Their age ranged between1and17years. Of the three children who had undergone skeletal muscle biopsies, only one showed misshaped and enlarged mitochondria under electron microscope indicating mitochondrial dysfunction. Five children were diagnosed with MELAS which mutate for A3243G. Five MELAS children were treated by the cocktail therapy and symptomatic treatment for stabilizing conditions, however two of the MELAS children died because of the progressive disease. The other three MELAS children remained alive relatively stable but the condition gradually worsens. We have finished3MELAS children’ rating scale by using the Newcastle pediatric mitochondrial disease scale, score was34.87in average and we found that the higher scores the worse prognosis and the poorer life quality. Literature reviewing included211MELAS patients from Wanfang database,164MELAS patients were included from Pubmed database. Conclusions MELAS is extremely complex genetic, quite dangerous and bad prognosis for metabolic disease,which affect the life quality seriously and the mortality rate is high, while A3243G is a hotspot mutation of MELAS. Clinical diagnosis could be made by the classical symptoms such as frequent and unknown heasache, stroke like episodes, myasthenia, short stature, and the relevant laboratory tests and abnormal neuroimaging signal, muscle biopsy and mitochondrial mutation analysis could be used as an important basis for final diagnosis of MELAS. Before the better treatments achieve, cocktails and symptomatic treatment can be temporarily stable MELAS patients and improve the quality of life, but as the disease progresses, the result can not be completely cured, even dead. NPMDS can be used as one of the assessment tool in ME children wit treatment efficacy and disease progresses.