Intrathecal baclofen therapy for Lesch-Nyhan disease: illustrative case

BACKGROUND: Lesch-Nyhan disease (LND) is a very rare metabolic disorder involving the purine salvage pathway. LND manifests hyperuricemia, self-mutilation, cognitive impairment, and movement disorders such as spasticity and dystonia, whose control is difficult pharmaceutically. OBSERVATIONS: Intrath...

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Detalles Bibliográficos
Autores principales: Satow, Takeshi, Ogawa, Masafumi, Komuro, Taro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association of Neurological Surgeons 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9236171/
https://www.ncbi.nlm.nih.gov/pubmed/35854688
http://dx.doi.org/10.3171/CASE202
Descripción
Sumario:BACKGROUND: Lesch-Nyhan disease (LND) is a very rare metabolic disorder involving the purine salvage pathway. LND manifests hyperuricemia, self-mutilation, cognitive impairment, and movement disorders such as spasticity and dystonia, whose control is difficult pharmaceutically. OBSERVATIONS: Intrathecal baclofen (ITB) therapy was received by a 22-year-old male for generalized dystonia. His paroxysmal abnormal dystonic posturing reduced after surgery, making the task of caregivers easier despite the unchanged assignment on the dystonia scale during a follow-up period of 4 years. LESSONS: ITB may be a safe and feasible option for dystonic symptoms and difficulty with nursing care in patients with LND.

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