Enfermedades mitocondriales: diagnóstico diferencial de enfermedad cerebrovascular en adulto joven a propósito de un caso

Abstract

Introduction: Mitochondrial diseases are a heterogeneous group of disorders characterized by impaired oxidative phosphorylation. Clinical manifestations are varied, depending on the nature of the mutation, phenotype of the mitochondria, degree of competition with normal mitochondrial DNA and affected tissues. The diagnosis is challenging and requires a high clinical suspicion with the corroboration of ragged red fibers on the muscle biopsy. Case report: We present the case of 41 years-old woman, with history of insulin dependent diabetes, bilateral sensorineural deafness, exercise intolerance and muscle weakness, which suffered a pseudovascular event with an increase of lactic acid in blood and cerebrospinal fluid. Brain magnetic resonance imaging showed a right temporo-parietal ischemic lesion. Muscle biopsy confirmed a mitochondrial myopathy. We emphasize the relevance of differential diagnosis of cerebrovascular disease in young adults.