Functional Neurosurgery Department, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China; Laboratory for Clinical Medicine, Capital Medical University, Beijing, China.
Functional Neurosurgery Department, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Clin Neurol Neurosurg. 2024 Jun;241:108306. doi: 10.1016/j.clineuro.2024.108306. Epub 2024 May 1.
Pantothenate kinase-associated neurodegeneration (PKAN) is a type of inherited metabolic disorder caused by mutation in the PANK2 gene. The metabolic disorder mainly affects the basal ganglia region and eventually manifests as dystonia. For patients of dystonia, their dystonic symptom may progress to life-threatening emergency--status dystonicus.
We described a case of a child with PKAN who had developed status dystonicus and was successfully treated with deep brain stimulation (DBS). Based on this rare condition, we analysed the clinical features of PKAN with status dystonicus and reviewed the reasonable management process of this condition.
This case confirmed the rationality of choosing DBS for the treatment of status dystonicus. Meanwhile, we found that children with classic PKAN have a cluster of risk factors for developing status dystonicus. Once children diagnosed with similar neurodegenerative diseases are under status dystonicus, DBS can be active considered because it has showed high control rate of this emergent condition.
泛酸激酶相关神经变性（PKAN）是一种由 PANK2 基因突变引起的遗传性代谢紊乱。代谢紊乱主要影响基底节区域，最终表现为肌张力障碍。对于肌张力障碍患者，其肌张力障碍症状可能进展为危及生命的紧急情况——肌张力障碍持续状态。
我们描述了一例患有 PKAN 的儿童出现肌张力障碍持续状态，并成功接受了深部脑刺激（DBS）治疗。基于这种罕见情况，我们分析了伴有肌张力障碍持续状态的 PKAN 的临床特征，并回顾了这种情况的合理管理过程。
该病例证实了选择 DBS 治疗肌张力障碍持续状态的合理性。同时，我们发现具有典型 PKAN 的儿童存在一组发生肌张力障碍持续状态的风险因素。一旦诊断出患有类似神经退行性疾病的儿童出现肌张力障碍持续状态，可积极考虑 DBS，因为它对这种紧急情况有较高的控制率。
