泛酸激酶相关神经退行性变患者的深部脑刺激选择。
Patient Selection for Deep Brain Stimulation for Pantothenate Kinase-Associated Neurodegeneration.
机构信息
Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, Florida, USA.
Department of Neurology, University of Florida, Gainesville, Florida, USA.
出版信息
Tremor Other Hyperkinet Mov (N Y). 2024 Oct 17;14:51. doi: 10.5334/tohm.929. eCollection 2024.
CLINICAL VIGNETTE
A 23-year-old woman with pantothenate kinase-associated neurodegeneration (PKAN) presented with medication-refractory generalized dystonia and an associated gait impairment.
CLINICAL DILEMMA
Bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) can be an effective treatment for dystonia. However, outcomes for PKAN DBS have been variable and there are no standardized criteria for patient selection.
CLINICAL SOLUTION
Bilateral GPi DBS implantation resulted in improvement in dystonia and gait. The benefit has persisted over one year after implantation.
GAP IN KNOWLEDGE
PKAN is a rare neurodegenerative disorder and evidence supporting the use of PKAN DBS has been largely limited to case reports and case series. Consequently, there is a paucity of long-term data, especially on gait-related outcomes.
EXPERT COMMENTARY
The clinical characteristics of dystonia that respond to DBS tend to respond in PKAN. Clinicians counselling patients about the effects of DBS for PKAN should thoughtfully discuss gait and postural instability as important aspects to consider, especially as the disease will progress post-DBS.
临床病例
一位 23 岁的女性患有泛酸激酶相关神经退行性变（PKAN），表现为药物难治性全身性肌张力障碍和相关步态障碍。
临床困境
双侧苍白球内侧（GPi）深部脑刺激（DBS）可有效治疗肌张力障碍。然而，PKAN 的 DBS 治疗效果各不相同，且患者选择尚无标准化标准。
临床解决方案
双侧 GPi DBS 植入术后，肌张力障碍和步态均得到改善。植入后一年多，这种益处仍在持续。
知识空白
PKAN 是一种罕见的神经退行性疾病，支持 PKAN DBS 使用的证据主要限于病例报告和病例系列。因此，长期数据非常有限，尤其是关于步态相关结果的长期数据。
专家评论
对 DBS 有反应的肌张力障碍的临床特征在 PKAN 中也有反应。向患者咨询 DBS 对 PKAN 的影响的临床医生应该深思熟虑地讨论步态和姿势不稳定作为需要考虑的重要方面，特别是在 DBS 之后疾病会进展的情况下。
Zotero 插件