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作 者:李婷 孙莹[1] LI Ting;SUN Ying(Department of Neurology,Xuanwu Hospital,Capital Medical University,Beijing 100053,China)
机构地区:[1]首都医科大学宣武医院神经内科,北京100053 [2]荆州市第一人民医院神经内科,湖北荆州434000
出 处:《中风与神经疾病杂志》2023年第8期747-751,共5页Journal of Apoplexy and Nervous Diseases
摘 要:目的探讨Fahr病患者的临床及影像特点,同时了解伴有癫痫发作的Fahr病患者的癫痫发作特点。方法对9例临床诊断为Fahr病患者的临床资料,包括临床症状、影像学、实验室检查、脑电图及基因检测等结果进行回顾性分析。结果9例患者主要临床表现为锥体外系症状、共济失调、认知障碍、精神症状,2例伴有癫痫发作,发作类型为局灶性发作不伴知觉障碍、局灶性进展为双侧强直-阵挛性发作,抗癫痫发作药物治疗有效,视频脑电图未见发作间期痫样放电。头颅CT均可见双侧基底节对称性钙化。所行腰穿及实验室检查均未见异常。3例有家族史,其中1例家族性患者的基因检测发现SLC20A2基因致病变异。结论Fahr病临床症状多样,头颅CT特征性表现为双侧基底节对称性钙化。该病尚无特效治疗,其中表现有癫痫发作的患者抗癫痫发作药物治疗有效。Objective To investigate the clinical and imaging characteristics of patients with Fahr's disease,and to understand the seizure characteristics of patients with Fahr's disease that presented with epileptic seizure.Methods The clinical data of 9 patients with Fahr's disease were retrospectively analyzed,including clinical symptoms,imaging,laboratory tests,electroencephalography(EEG),and genetic testing.Results The main clinical manifestations of 9 patients were extrapyramidal symptoms,ataxia,cognitive impairment and psychiatric symptoms,2 patients were accompanied by seizures.The classification of seizure type was focal seizure with retained awareness and focal to bilateral tonic-clonic seizure,and all the seizures were responsive to the anti-seizure medications.Video EEG did not show interictal epileptic discharge.Bilateral symmetric calcifications of the basal ganglia were observed on head CT.Lumbar puncture and laboratory tests showed no abnormalities.Three patients had family histories,and SLC20A2 mutation was identified in one family by whole-exome sequencing.Conclusion Fahr's disease has diverse clinical symptoms.The characteristic of head CT shows bilateral symmetric calcification of the basal ganglia.There is no specific treatment for Fahr's disease,and most of the seizures were responsive to the anti-seizure medications.
分 类 号:R742[医药卫生—神经病学与精神病学]
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