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目的:探讨热性惊厥(FS)伴发作性运动诱发性运动障碍(PKD)的临床特征和遗传特点。方法:回顾性分析1例中国汉族FS伴PKD家系的临床资料,并进行文献复习。结果:共调查该家系41名成员,该家系有8例FS患者,5例PKD患者,其中2例FS患者伴发PKD。5例PKD患者均表现为静止状态下突然运动诱发的短暂不自主运动,神经系统查体均无异常;所有患者MRI/CT正常,3例脑电图异常,2例正常;抗癫药物治疗有效。结论:该家系诊断为复杂性PKD,呈不全外显性遗传,热性惊厥与发作性运动诱发性运动障碍可能有相关性。
Objective: To investigate the clinical features and genetic characteristics of febrile seizures (FS) with episodic motor-induced dyskinesia (PKD). Methods: A retrospective analysis of 1 Chinese Han FS with PKD pedigree clinical data and literature review. RESULTS: A total of 41 members of the pedigree were surveyed, with 8 FS patients and 5 PKD patients, of whom 2 had FSD with PKD. 5 cases of PKD patients showed transient involuntary movement induced by sudden exercise at rest, nervous system examination showed no abnormalities; MRI / CT in all patients were normal, 3 cases of abnormal EEG, normal 2 cases; antiepileptic drugs effective . Conclusion: The pedigree diagnosis of complex PKD, was incomplete overt heritability, febrile seizures and episodic motor-induced dyskinesia may be related.