Fulminant Form of Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes: A Diagnostic Challenge

Since stroke in childhood, although rare, has many potential causes, identification of the underlying disease offers a diagnostic challenge. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare disorder often mistaken for other diseases. Here, we describe the case of a previously healthy 11-year-old girl who initially presented with gastroenteritis-like symptoms after strenuous exercise. Her symptoms however rapidly evolved to include diplopia, dysarthria, seizures, and probable status epilepticus, followed by cardiac arrest. Resuscitation was successful, but she went into a persistently vegetative state due to hypoxic brain damage. Hyperlactatemia, hearing loss, and hypertrophic cardiomyopathy were subsequently detected; therefore, a diagnosis of MELAS was established. The fulminant course in the first stroke-like episode posed a challenge in the diagnosis of MELAS.