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

Abstract

OBJECTIVES:

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.

METHODS:

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.

RESULTS:

We observed a remarkable improvement in dystonia symptoms and complete disappearance of self-injurious behavior.

CONCLUSIONS:

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.

• Authors: Fabián Piedimonte, Juan Carlos Andreani, Leandro Piedimonte, Federico Micheli, Pablo Graff, Valeria Bacaro
• Journal: Neuromodulation : journal of the International Neuromodulation Society (Neuromodulation) Vol. 18 Issue 2 Pg. 118-22; discussion 122 (Feb 2015) ISSN: 1525-1403 [Electronic] United States
• PMID: 25603976 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2015 International Neuromodulation Society.

Topics

• Adult
• Deep Brain Stimulation (methods)
• Disability Evaluation
• Globus Pallidus (physiology)
• Humans
• Lesch-Nyhan Syndrome (therapy)
• Longitudinal Studies
• Magnetic Resonance Imaging
• Male