Clinical features, image, electroencephalogram and genetic study in twelve melas patients / 中国神经精神疾病杂志

ABSTRACT

Objective The aim of this article is to study the clinical features, image, electroencephalogram and gene mutation of mitochondrial encephalomyopathy with MELAS and to improve understanding of the disease. Methods Clinical data was collected from 12 MELAS cases. Their clinical symptoms, head imageological result,electroencephalo-gram and gene mutation were analyzed. Results The average onset age was 28 years old. The main manifestations of 12 patients were epilepsy(66.7%), stroke-like episodes(50.0%), mental behavious disorder and decrease of perceive (41.7%),diabetes or abnormal glucose tolerance(41.7%), hearing impairment(41.7%). The imaging results showed long T1, long T2 and high signals on DWI. The nidus involved occipital lobe, temporal lobe, parietal lobe most. Five of six cases undergoing MRS imaging had large lactate peak at 1.33 ppm. There were 9 cases carrying mtDNA A3243G muta-tion. Conclusion The clinical presentation of MELAS is highly variable without any obvious specificity on MRI and EEG. Large lactate peak on MRS may indicate the disease. Most patients carry A3243G mutation.