Tran Hung T, Nguyen Khang V, Vercueil Laurent
Department of Neurology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.
Parkinson's disease and Movement disorders clinic, Nguyen Tri Phuong Hospital, Ho Chi Minh City, Vietnam.
Case Rep Neurol. 2021 Sep 13;13(3):598-604. doi: 10.1159/000518891. eCollection 2021 Sep-Dec.
Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition characterized by abnormal involuntary movements that are precipitated by a sudden movement. PKD is often misdiagnosed with psychogenic movement disorders. Carbamazepine is usually the first choice of medication due to its well-established evidence but could induce Stevens-Johnson syndrome. We report a 21-year-old male patient with PKD referred to our movement disorders clinic after being misdiagnosed with conversion syndrome. PRRT2 gene testing using next-generation sequencing revealed a mutation in c.649dupC p. (Arg217fs). The patient responded well to carbamazepine but had to withdraw the treatment due to carbamazepine-induced Stevens-Johnson syndrome after 3 weeks of medication. Our patient did not respond to trials of levetiracetam and phenytoin but finally responded well to oxcarbazepine. The patient was followed up for 4 years, during which he had no attacks and no side effects. Here, we present a PKD case with carbamazepine-induced Stevens-Johnson syndrome successfully treated with oxcarbazepine despite the risk of cross-reactive skin eruption between these antiepileptics. Careful history taking and examining patient's attacks are crucial to accurate diagnosis and treatment in PKD patients.
发作性运动诱发性运动障碍（PKD）是一种罕见的疾病，其特征是突然运动引发异常的不自主运动。PKD常被误诊为精神性运动障碍。由于有充分的证据，卡马西平通常是首选药物，但可能诱发史蒂文斯-约翰逊综合征。我们报告一名21岁男性PKD患者，在被误诊为转换综合征后转诊至我们的运动障碍诊所。使用下一代测序进行的PRRT2基因检测显示c.649dupC p.（Arg217fs）处有突变。该患者对卡马西平反应良好，但用药3周后因卡马西平诱发的史蒂文斯-约翰逊综合征而不得不停药。我们的患者对左乙拉西坦和苯妥英试验无反应，但最终对奥卡西平反应良好。该患者接受了4年的随访，在此期间他没有发作且没有副作用。在此，我们报告一例PKD病例，尽管这些抗癫痫药物之间存在交叉反应性皮疹的风险，但使用奥卡西平成功治疗了卡马西平诱发的史蒂文斯-约翰逊综合征。仔细询问病史和检查患者的发作情况对于PKD患者的准确诊断和治疗至关重要。
