Desaparición completa de la automutilación con estimulación cerebral profunda bilateral del globo pálido interno en un caso de síndrome de Lesch-Nyhan. Tres años de seguimiento

Fabián Piedimonte; Leandro Piedimonte; Federico Micheli; Juan Carlos Andreani; Pablo Graff

doi:10.47924/neurotarget2013267

Authors

Fabián C. Piedimonte Fundación CENIT para la Investigación en Neurociencias. Ciudad Autónoma de Buenos Aires. Argentina. https://orcid.org/0000-0003-4661-4449
Leandro Piedimonte Fundación CENIT para la Investigación en Neurociencias. Ciudad Autónoma de Buenos Aires. Argentina.
Federico Micheli Parkinson's and Abnormal Movements Program, Hospital de Clínicas “José de San Martín”
Juan Carlos Andreani Fundación CENIT para la Investigación en Neurociencias. Ciudad Autónoma de Buenos Aires. Argentina.
Pablo Graff Fundación CENIT para la Investigación en Neurociencias. Ciudad Autónoma de Buenos Aires. Argentina.

DOI:

https://doi.org/10.47924/neurotarget2013267

Keywords:

deep brain stimulation, globus pallidus internus, Lesch Nyhan syndrome, neuromodulation, self-mutilation

Abstract

Introduction: Lesch–Nyhan syndrome (LNS) is a hereditary disease 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 patient suffering from such a deleterious condition by deep brain stimulation (DBS).
Materials and Methods: We present a 29 years old patient suffering from LNS treated by means of bilateral single globus pallidus internus (GPi) DBS using Taira’s method.
Results: We observed a progressive remarkable improvement on both, self aggressive behavior and dystonic symptoms.
Discussion: This case along with Taira’s experience, strongly suggests that automutilation in LNS might be related to dysfunction of the basal ganglia circuits and that bilateral GPi-DBS is a promising treatment modality for this condition.
Conclusions: Given the fact that the results obtained by some working teams by means of single bilateral GPi stimulation are similar to those achieved by other professionals using double bilateral stimulation on both, limbic and motor compounds of GPi, we recommend the former method as it is less invasive and similarly efficacious.

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