Introduction
Mitochondrial disorders consist of a number of diseases, which are mostly due to gene mutations of mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). Clinical traits usually demonstrate as symptoms in high energy-consuming organs such as brain, skeletal muscles, myocardium and endocrine systems1. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is presumably the most common mitochondrial disorder, which is inherited maternally2.
MELAS was first introduced in 19843, which typically presents with stroke-like episodes, seizures, short stature, encephalopathy, muscle weakness, nausea, vomiting, headaches, diabetes mellitus, exercise intolerance, sensorineural hearing loss, myopathy and lactic acidosis3,4,5,6. Magnetic Resonance Imaging (MRI) in company with muscle biopsy and genetic studies is now the foundation of diagnosis in MELAS cases7.
In this case report, we will review the presentation of symptoms, diagnosis challenges and follow-ups in a patient affected with MELAS. This study has been approved by Shahid Beheshti Medical University research ethics committee and informed consent was obtained from the subject in this study.