散发性成人型神经元核内包涵体病一例

2019-12-13 王艳 易艳辉 李小渡 中华内科杂志 神经科病例撷英拾粹

患者女,62岁,农民。因“发作性头痛伴意识不清3年”入院。患者于3年前无明显诱因反复出现发作性头痛,吐词不清,共发作7次,每次头痛后数分钟-数十分钟即出现意识不清,呼之不应,意识不清持续数天(一般7d左右),每次均伴有发热,体温38°C左右,有时伴有发作性肢体抽搐,无双眼睑上翻及眼球上窜,无口吐白沫,曾于多家医院诊治,未能确诊。于2018年7月4日再次无明显诱因出现头痛,吐词不清,并感右上肢无力,

患者女,62岁,农民。因“发作性头痛伴意识不清3年”入院。患者于3年前无明显诱因反复出现发作性头痛,吐词不清,共发作7次,每次头痛后数分钟-数十分钟即出现意识不清,呼之不应,意识不清持续数天(一般7d左右),每次均伴有发热,体温38°C左右,有时伴有发作性肢体抽搐,无双眼睑上翻及眼球上窜,无口吐白沫,曾于多家医院诊治,未能确诊。于2018年7月4日再次无明显诱因出现头痛,吐词不清,并感右上肢无力,无行走不稳,无呕吐,无畏寒、发热,无抽搐及意识不清,在家休息1d,症状无好转。2018年7月5日入住当地医院神经内科,期间出现行为异常,在当地医院诊断为“急性脑梗死”,经治疗病情无明显好转,为求进一步诊治,转入我院。既往史:有“子宫肌瘤”病史;2017年在外院诊断为“帕金森病”,坚持服用多巴丝肼片0.125g 3次/d、苯海索片1mg 2次/d、司来吉兰片5mg 2次/d治疗,症状无明显改善。否认沿海地区居住史;否认家族中类似病史。
 
入院时体检:体温37.0℃,脉搏94次/min,呼吸22次/min,血压180/98mmHg(1mmHg=0.133kPa);神志呈浅昏迷,双侧瞳孔等大等圆,直径约3.0mm,对光反射灵敏,右侧鼻唇沟变浅,口角左歪;颈部肌肉紧张,疼痛刺激下右上肢肌力0级、右下肢肌力1级、左侧肢体肌力3级,右侧肢体肌张力低,右侧巴宾斯基征阳性,凯尔尼格征、布鲁辛斯基征阴性;双肺可闻及湿哕音,心脏、腹部体检未见异常。辅助检查:头颅磁共振成像(MRI)平扫+弥散加权成像(2018年7月6日,外院)示弥散成像可见双侧额顶叶皮层区域条片状异常信号,考虑缺血可能,相应部位T1成像、T2成像及表观弥散系数(ADC)像未见异常信号(图1);脑脊液生化+常规(2018年7月6日,外院)正常。
 
入院后完善相关检查:头颅MRI弥散加权成像(2018年7月11日,本院)示:双侧额、颞、枕叶皮髓质交界区条片状高信号;动态脑电图:(1)背景活动以全导持续性θ慢波活动混杂δ分布为著,提示脑功能严重损伤,睡眠分期及睡眠波分布欠连续;(2)监测期未见明显癫痫样放电波。予以阿昔洛韦抗病毒、头孢他啶抗细菌感染等治疗及对症支持治疗。于2018年7月16日进行了皮肤(右侧下肢外侧,外踝上方10cm处,包括表皮、真皮和一定的皮下组织)、腓肠神经(右下肢外踝后方1.5cm处)、肌肉(左下肢后侧中段稍内侧)活检。活检可见腓肠神经变粗,直径约3mm,电镜下结果显示(图2-4):神经束内2类神经纤维均减少,施万细胞数目多、增生,部分髓鞘变薄或分层或空泡变性,轴索内水肿、线粒体空泡化;皮肤成纤维细胞可见核内包涵体;肌肉活检可见部分肌纤维内少量脂滴散在沉积,肌膜下小灶线粒体稍增多、聚集,少部分线粒体固缩、致密变,少部分水肿、空泡化,局灶肌膜下少量脂褐素沉积。明确诊断:散发性成人型神经元核内包涵体病。住院期间,患者病情无好转,于2018年7月24日出现病情加重,血氧饱和度下降、血压测不出,积极抢救后自动出院。出院后随访,患者于当日在回家途中死亡。





讨论

神经元核内包涵体病(neuronal intranuclear inclusion disease,NIID)是一种临床异质性神经系统退行性疾病,可在全身多个器官出现细胞核内嗜酸性包涵体,以皮肤活检可见核内嗜酸性包涵体及头颅MRI弥散成像可见特征性皮质,髓质交界区信号为特征。根据其发病年龄,此病可分为幼儿型、青少年型、成人型,其中成人型以认知功能障碍为初始症状或核心症状。确诊一般依靠皮肤活检或者直肠活检病理。

该病可表现为锥体系和锥体外系症状、小脑性共济失调、痴呆、痫性发作、周围神经病以及自主神经功能障碍。国内于2018年11月由陈为安等首先报道了1例以发作性意识障碍为主要症状的病例。本例患者慢性起病,反复发作性病程,表现为发作性头痛及意识障碍,这与国外报道的成人型NIID初始症状或核心症状不符,头颅磁共振弥散像具有典型的“皮层下绸带征”,符合NIID的特点,经过皮肤活检明确了诊断。患者病程表现为临床与影像学分离,即表现有头痛、意识障碍等发作性症状,而影像学表现持续存在,机制尚不明确,有待于进一步的研究。

由于最初诊断不明确,我们同时做了皮肤、神经、肌肉的活检。神经活检肉眼可见腓肠神经增粗。周围神经增粗常见于慢性炎症性脱髓鞘性多发性神经病、腓骨肌萎缩症、麻风等。目前国内外对此病的周围神经损害认识尚不足。此患者出现周围神经增粗原因尚不明确,是特例还是具有普遍性?NIID与引起周围神经增粗的疾病合并存在还是NIID本身引起了周围神经增粗?是否为NIID本身引起了周围神经脱髓鞘后再生所致?目前我们尚无法明确,有待于更多的神经活检证据。

既往关于NIID有两种假说:一是它可能是一个多聚谷氨酰胺病,其中受影响的基因尚未确定;二是它可能包括影响重叠分子通路的遗传障碍。然而,由于神经元核内包涵体的分子底物仍然未知,其致病机制仍然未被阐明。也有研究认为,核包涵体不一定对神经元有毒性。本例患者神经及肌肉活检的电镜资料显示:神经元内神经纤维、髓鞘、线粒体异常,肌肉也可见线粒体异常,所以我们推测,线粒体结构及功能的异常在此病的发生、发展中可能起一定作用。

由于NIID的临床异质性,此病可能会被误诊为各种类型的痴呆、帕金森病、癫痫、脑炎、短暂性脑缺血发作、卒中等。本例患者病程迁延,呈发作性病程,由于对影像学认识的不足,曾一度被诊断为“急性脑梗死”“脑炎”“帕金森病”。因此,对于疑似诊断的病例,及时行磁共振弥散成像检查,必要时行皮肤活检协助诊断,对于及时明确诊断、评估预后具有重要意义。

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    2020-03-13 zxxiang
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    2020-06-23 lmm409
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