Síndrome de leigh

Abstract

Objective: To report a rare case of Leigh Syndrome by describing its evolution, symptoms and the treatment used in this case, aiming to increase the general knowledge about the disease. Case report: A boy had normal development until 2 months of age when started to present seizures and progressive psychomotor impairment. He was diagnosed with Leigh Syndrome at the age of 5 months after the brain magnetic resonance imaging (MRI) evidence of lesions at the basal ganglia of both hemispheres. The treatment used was based on anticonvulsants - topiramate and phenobarbital - as well as coenzyme Q10 supplementation. The patient had significant improvement in psychomotor retardation due to clinical treatment, but at 7 months had pneumonia with a progressive worsening that led to cardiac arrest and death. Conclusion: Leigh syndrome is a rare progressive neurodegenerative disease that has no effective treatment, thus needs further study in order to comfort and help the physician to manage it, and also the parents to face their kids' condition.