双侧苍白球内侧部脑深部电刺激治疗亨廷顿病1例

doi:10.19854/j.cnki.1008-2425.2025.01.0010

摘要/Abstract

摘要： 报告1例70岁的男性患者,于入院前8年出现走路不稳伴全身不自主运动,入院1月前半年前因全身严重舞蹈样症状走路不稳,多次摔倒,无法独自静坐,频繁出现头部后仰及咂嘴样动作,伴有轻度吞咽困难、饮水呛咳,生活不能自理,口服氘丁苯那嗪片(6mg/次,2次/d)无效。未出现明显记忆力下降及情绪异常。基因检测提示HTT基因1号外显子中(CAG)1个等位基因重复次数超出正常范围,明确诊断“亨廷顿病(huntington's disease,HD)”,该患者有明确的家族史,母亲及1弟均患有此病。神经系统体格检查可见全身不自主运动。颅脑MRI可见左额颞顶、右额颅骨内板下异常信号;缺血性脑白质脱髓鞘改变;脑萎缩。对患者行双侧苍白球内侧核(internal globus pallidus,GPi)脑深部电刺激(deep brain stimulation,DBS)治疗。手术前后通过HD统一评定量表(unified Huntington disease rating scale,UHDRS)-运动评分对患者的运动功能进行评估并定期随访,其术前及术后2个月、3个月、7个月UHDRS-运动评分分别为106分、63 分、62 分、49分。术后7个月,患者的舞蹈样动作明显减轻,躯干及四肢近端能够保持稳定,仅在面部及四肢远端能够观察到不自主运动。

中图分类号:

史烨童, 程轶峰, 崔德秋, 魏新明, 冯珂珂. 双侧苍白球内侧部脑深部电刺激治疗亨廷顿病1例[J]. 立体定向和功能性神经外科杂志, 2025, 38(1): 52-55.

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