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A Rare Case of Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like Episodes Syndrome

Ariff Aizzat Abdul Razak,Mohd Zakwan Md Muslim,Noor Azlin Azraini Che Soh,Aniza Mohammed Jelani

2024 · DOI: 10.51407/mjpch.v30i2.301
Malaysian Journal of Paediatrics and Child Health · 0 Citations

TLDR

A case where the initial misdiagnosis as meningoencephalitis was later revised through comprehensive laboratory investigations, ultimately revealing MELAS syndrome as the underlying condition underscores the complexity of diagnosing such rare disorders and highlights the importance of thorough assessments for accurate and timely management.

Abstract

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, a rare mitochondrial disorder, pose diagnostic challenges for healthcare providers. Its diverse clinical presentations can confound clinicians, potentially leading to misdiagnosis and delayed treatment. We present a case where the initial misdiagnosis as meningoencephalitis was later revised through comprehensive laboratory investigations, ultimately revealing MELAS syndrome as the underlying condition. This underscores the complexity of diagnosing such rare disorders and highlights the importance of thorough assessments for accurate and timely management.