Article ; Online: Remarkable clinical improvement with bilateral globus pallidus internus deep brain stimulation in a case of Lesch-Nyhan disease: five-year follow-up.
Neuromodulation : journal of the International Neuromodulation Society
2015 Volume 18, Issue 2, Page(s) 118–22; discussion 122
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 ... ...
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. |
---|---|
MeSH term(s) | Adult ; Deep Brain Stimulation/methods ; Disability Evaluation ; Globus Pallidus/physiology ; Humans ; Lesch-Nyhan Syndrome/therapy ; Longitudinal Studies ; Magnetic Resonance Imaging ; Male |
Language | English |
Publishing date | 2015-01-21 |
Publishing country | United States |
Document type | Case Reports ; Journal Article |
ZDB-ID | 1500372-3 |
ISSN | 1525-1403 ; 1094-7159 |
ISSN (online) | 1525-1403 |
ISSN | 1094-7159 |
DOI | 10.1111/ner.12261 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
Full text online
More links
Kategorien
In stock of ZB MED Cologne/Königswinter
Zs.A 5912: Show issues | Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG) |
Order via subito
This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.