B-20 Neuropsychological Profile in an Individual with Mitochondrial Encephalopathy, Lactic acidosis, and Stroke-like episodes (MELAS): A Case Study

Abstract

Abstract Objective Mitochondrial Encephalopathy, Lactic acidosis, and Stroke-like episodes (MELAS) is a rare and debilitating mitochondrial disease that affects bodily systems at the neurological level. The purpose of this study is to contribute to the paucity of research regarding the neuropsychological presentation and functional impact of MELAS. Method Mr. James is a 23-year-old male of Thai descent who initially presented with 2-3 days of headaches followed by generalized seizures and altered mental status. Over the course of one year, Mr. James experienced recurrent seizures with postictal confusion, and transient aura-like episodes. Patient was diagnosed with MELAS based off a combination of clinical findings, including magnetic resonance imaging (MRI) spectroscopy (SPECT) and molecular genetic testing. Extensive evaluation revealed persistent bilateral multifocal cortical/subcortical lesions, diffuse edema like signal and expansion involving the bifrontal, bitemporal, and bilateral subinsular cortices. Neuropsychological sequalae included physical, cognitive, and emotional changes from baseline. Results Mr. James was given a comprehensive neuropsychological battery in order to identify marked changes from his pre-morbid levels of neuropsychological functioning. Consistent with the literature, his profile revealed hallmark expressive and receptive language difficulties and markedly reduced bilateral fine motor functioning. In addition, problems with higher order executive skills (i.e., cognitive flexibility, problem-solving, and hypothesis testing) were elucidated, correlating with individual findings on neuroimaging. Conclusions Neuropsychological evaluation of Mr. James contributes to the dearth of research surrounding MELAS. These findings also highlight the importance of neuropsychological testing as part of the comprehensive evaluation for diagnostic clarification, and provide recommendations of the functional impact for others affected with this disease.