Intrathecal baclofen therapy for Lesch-Nyhan disease: illustrative case.
J Neurosurg Case Lessons
; 1(1): CASE202, 2021 Jan 04.
Article
em En
| MEDLINE
| ID: mdl-35854688
ABSTRACT
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.
BADS = Barry-Albright Dystonia Scale; CP = cerebral palsy; CT = computed tomography; DIS = Dystonia Impairment Scale; EMG = electromyogram; GABA = γ-aminobutyric acid; ITB = intrathecal baclofen; LND = Lesch-Nyhan disease; Lesch-Nyhan disease; NRS = numeric rating scale; UDRS = Unified Dystonia Rating Scale; dystonia; intrathecal baclofen therapy; nursing care
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Base de dados:
MEDLINE
Idioma:
En
Revista:
J Neurosurg Case Lessons
Ano de publicação:
2021
Tipo de documento:
Article