Remarkable clinical improvement with bilateral globus pallidus internus deep brain stimulation in a case of Lesch-Nyhan disease: five-year follow-up.

Abstract

Lesch-Nyhan disease (LND) is a hereditary disorder characterized by hyperuricemia, self-mutilation, developmental retardation, and movement disorders such as spasticity and dystonia. The lack of a precise understanding of the neurological dysfunction has precluded the development of useful conservative therapies. We present our experience treating a LND patient by bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) with improvement in dystonia symptoms and disappearance of self-injurious behavior. We present a 29-year-old patient characterized by generalized severe dystonia and self-injurious behavior, both refractory to conservative treatment. The patient underwent a GPi bilateral electrode implant for chronic stimulation. Symptoms were evaluated with the Burke-Fhan-Marsden Dystonia Rating Scale (BFMDRS) and Mean Disability Scale (MDS) preoperatively and during the five-year follow-up. We observed a remarkable improvement in dystonia symptoms and complete disappearance of self-injurious behavior. This case supports the hypothesis that automutilation in LND might be related to dysfunction of the basal ganglia circuits and the idea that bilateral GPi-DBS is a safe and effective treatment modality for this condition.