假性甲状旁腺功能减退症导致发作性运动诱发性运动障碍2例并文献复习  

Paroxysmal kinesigenic dyskinesia secondary to pseudohypoparathyroidism:a report of 2 cases and literature review

作　　者：陈秋蕾 翁诗雯 王娜[1] 李志梅[1] 邵晓秋[1] 王群[1] 吕瑞娟[1] Chen Qiulei;Weng Shiwen;Wang Na;Li Zhimei;Shao Xiaoqiu;Wang Qun;Lyu Ruijuan(Department of Neurology,Beijing Tiantan Hospital,Capital Medical University,Beijing 100070,China;Department of Neurology,Guangzhou Geriatric Hospital,Guangzhou 510550,China)

机构地区：[1]首都医科大学附属北京天坛医院神经病学中心癫痫科,北京100070 [2]广州市老年医院神经内科,广州510550

出　　处：《中华神经科杂志》2023年第10期1119-1127,共9页Chinese Journal of Neurology

基　　金：北京市自然科学基金-海淀原始创新联合基金(L222033)。

摘　　要：目的探讨假性甲状旁腺功能减退症(PHP)导致发作性运动诱发性运动障碍(PKD)的临床特点,以提高临床医师对该病的认识。方法总结首都医科大学附属北京天坛医院于2022年6—10月收集的继发于PHP的PKD患者2例,结合文献回顾性分析该病的发病机制、临床表现、实验室和影像学特点,并对其治疗及预后进行总结。结果共检索到9篇文献报道PHP导致PKD,共10例患者,结合本文病例共12例。发病年龄8~23岁,男性7例(7/12),女性5例(5/12)。临床表现包括发作性肢体扭转、肢体僵硬、肢体颤抖、投掷动作、舞蹈样动作等症状,其中3例患者(3/12)同时合并痫性发作,10例患者(10/12)有明确运动诱发因素,2例患者(2/12)未提及诱发因素,11例(11/12)患者症状持续时间<2 min可自行缓解。仅有1例患者有家族史。所有患者实验室检查可见低钙、高磷、甲状旁腺素显著升高。10例(10/12)患者的影像学检查提示有颅内多发钙化。对9例患者(9/12)只给予补充钙、活性维生素D治疗,3例患者(3/12)还额外给予抗癫痫药物治疗,所有患者均预后良好。结论PHP是继发性PKD的罕见病因,少部分患者可同时合并癫痫发作,大部分患者在补充钙和活性维生素D治疗后预后良好。Objective To explore the clinical characteristics of paroxysmal kinesigenic dyskinesia(PKD)secondary to pseudohypoparathyroidism(PHP),so as to improve the clinicians′understanding of the disease.Methods The clinical data of 2 cases of PKD secondary to PHP in Beijing Tiantan Hospital,Capital Medical University from June 2022 to October 2022 were summarized,and the related literature was reviewed to analyze the pathogenesis,clinical manifestations,laboratory examination and imaging characteristics of the disease,as well as its treatment and prognosis.Results Ten cases of PKD secondary to PHP were previously reported.A total of 12 cases(including these 2 cases)were included in the study,of which 7 were males(7/12)and 5 were females(5/12).The onset age was 8-23 years.The clinical manifestations of the disease included paroxysmal limb torsion,limb stiffness,limb tremor,throwing movements,and dance like movements.There were 3 cases(3/12)who had seizure at the same time.Ten cases(10/12)were induced by exercise,while 2 cases(2/12)were not mentioned the inducing factor.Eleven cases(11/12)with paroxysmal symptoms lasting less than 2 minutes can be relieved automatically.Only 1 case had a family history.Laboratory examination of all patients showed low calcium,high phosphorus and significant elevation of parathyroid hormone.The head CT scans of 10 cases(10/12)showed multiple intracranial calcifications.There were 9 cases(9/12)alone received the supplementation of calcium and active vitamin D,while 3 cases(3/12)were additionally treated with antiepileptic drugs.All cases had good prognosis.Conclusions PHP is a rare cause of secondary PKD.A small number of patients can have seizures at the same time.Most patients have a good prognosis after receiving calcium and active vitamin D supplementation.

关 键 词：PHP 症状持续时间 北京天坛医院 临床医师 甲状旁腺素 舞蹈样动作 发病年龄 文献报道 

分 类 号：R582.2[医药卫生—内分泌] R746[医药卫生—内科学]