MITOCHONDRIAL ENCEPHALOMYOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE SYNDROME: A CASE REPORT

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2013-04-12

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Quackenbush, David

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Abstract

Purpose: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), is a rare syndrome inherited through mitochondrial DNA, and thus from the female parent. This case study serves to educate health professionals in the diagnosis, care, and prognosis of individuals with MELAS syndrome. Methods: Information for this case report was collected retrospectively from electronic medical records of the patient's clinical encounters at a family medicine clinic. This information was compared to other case reports and research done on MELAS syndrome and compiled for a poster presentation. Results: MELAS syndrome is a multisystem illness, and individuals often have varied presentations. MELAS syndrome is often found during childhood, and there are several key symptoms that should raise a clinician's suspicion. The patient presented in the case report had many of the health issues associated with MELAS syndrome including seizures and a stroke at a young age. Conclusions: This case report demonstrates the effect MELAS syndrome has on an individual. The case serves to educate health professionals in the common presentation of this rare mitochondrial disease and discusses different treatment modalities that have been attempted among other affected individuals.

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