Abstract：
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.
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.
摘要：
背景：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神经节区，最终表现为肌张力障碍。对于肌张力障碍患者，他们的肌张力障碍症状可能发展为危及生命的紧急情况-状态肌张力障碍。
目的：我们描述了一例PKAN患儿，该患儿已发展为肌张力障碍，并通过深部脑刺激（DBS）成功治疗。基于这种罕见的情况，我们分析了PKAN伴有肌张力障碍的临床特征，并回顾了这种情况的合理治疗过程。
结论：该病例证实了选择DBS治疗肌张力障碍的合理性。同时,我们发现,患有经典PKAN的儿童有一系列发展为肌张力障碍的危险因素.一旦被诊断患有类似神经退行性疾病的儿童处于肌张力障碍状态，可以积极考虑DBS，因为它对这种紧急情况显示出较高的控制率。
目的：我们描述了一例PKAN患儿，该患儿已发展为肌张力障碍，并通过深部脑刺激（DBS）成功治疗。基于这种罕见的情况，我们分析了PKAN伴有肌张力障碍的临床特征，并回顾了这种情况的合理治疗过程。
结论：该病例证实了选择DBS治疗肌张力障碍的合理性。同时,我们发现,患有经典PKAN的儿童有一系列发展为肌张力障碍的危险因素.一旦被诊断患有类似神经退行性疾病的儿童处于肌张力障碍状态，可以积极考虑DBS，因为它对这种紧急情况显示出较高的控制率。
