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这一恶性疾病貌似颈椎病

2017-08-04 张微微 戚晓昆 神经科少见病例

颈椎病广泛发生于中老年,多数患者有头晕症状伴随。若将头晕首先考虑为颈椎病,则容易掩盖小脑肿瘤等实质性疾病。小脑髓母细胞瘤是好发于儿童的小脑恶性肿瘤,成人少见,仅占颅内肿瘤的1%。笔者报道1例临床表现类似颈椎病的成人髓母细胞瘤。

颈椎病广泛发生于中老年,多数患者有头晕症状伴随。若将头晕首先考虑为颈椎病,则容易掩盖小脑肿瘤等实质性疾病。小脑髓母细胞瘤是好发于儿童的小脑恶性肿瘤,成人少见,仅占颅内肿瘤的1%。笔者报道1例临床表现类似颈椎病的成人髓母细胞瘤。

临床资料

患者女性,44岁,以“头晕、头颈痛伴恶心、呕吐4个月”入院。患者入院前4个月出现阵发性头晕,当时无天旋地转感。当地医院门诊考虑“椎‐基底动脉供血不足”颈椎MR检查提示:C3~4,C4~5,C5~6椎间膨隆伴变性。TCD:双侧椎动脉狭窄,右侧明显。基底动脉、右侧椎动脉高流速(转颈试验:左转(+);左侧颈内动脉颅内段多发狭窄样频谱。门诊诊断“颈椎病”。给予牵引、按摩理疗病情无好转,头晕症状逐渐加重。每3~4天发作一次,时伴有复视。1个月后渐出现头痛、颈部疼痛,头晕时伴非喷射状呕吐。电话询问病情,建议应用甘露醇脱水试验治疗,结果可缓解。提出做头颅MRI,注意小脑占位病变。当地医院认为诊断明确,不需要做头颅MRI。病情继续恶化,甘露醇脱水治疗从每周两次发展为每日1次。于2005年5月20日做头颅MR:右侧小脑半球占位病变。立即来我院住院治疗。

既往史:音乐教师,既往健康。

查体:眼底视乳头边界不清,轻度渗出,无出血。双眼左侧注视可引出水平眼震,右侧视时出现垂直性眼震。四肢肌力正常,肌张力偏低。双侧指鼻、轮替及跟膝胫试验欠稳准,脑膜刺激征(-),右侧Babinski征(±)。

影像学检查:头颅MR:右侧小脑半球占位性病变,病灶呈等密度,内有圆形长T1异常信号;伴梗阻性脑积水(图2.7‐1、图2.7‐2)。



图2﹒7‐1头颅MRI



图2﹒7‐2头颅MRI

其他辅助检查:血、尿、便常规、肝肾功能、血糖、血脂、血电解质、心肌酶谱均正常。心电图T波改变。胸部正侧位片、胸部CT扫描未见异常。腹部、盆腔超声正常。乳腺超声提示:左侧乳腺单发小囊肿,考虑乳腺增生所致可能。

治疗结果:甘露醇脱水降颅压,控制脑水肿治疗;全麻下行右侧小脑肿瘤根治切除术,术中冰冻病理结果:HE染色瘤细胞排列密集呈短梭形不规则形,染色质增生,局部似成结节状排列(图2.7‐3~2.7‐8)。高倍镜下细胞异形性明显,可见结节状排列,肿瘤细胞局部坏死。免疫组化染色:肿瘤细胞Neu‐N(+)、Syn(+)、Vim(+)、Ki‐67 20%(+)网织纤维染色(+),结节周围肿瘤间丰富网状纤维将其分隔为结节状。病理诊断:右小脑髓母细胞瘤(促纤维增生型)。术后继续辅助放疗。术后头晕、头痛症状消失,随诊3年余无复发。



图2﹒7‐3病理结果

讨论

临床症状为头晕的中年女性就诊,常见原因为颈椎病颈性眩晕、梅尼埃病、后循环缺血、精神性眩晕等,此外四脑室及后颅凹肿瘤引起的眩晕也不容忽视。颈椎病颈性眩晕的产生有两种情况,一是椎动脉受骨刺的机械性压迫,发生狭窄或闭塞;二是颈交感神经受刺激,引起椎动脉痉挛。临床实践中真正的椎动脉型颈椎病极为罕见,一般归纳入交感型颈椎病。颈椎存在节段性不稳定,使颈椎周围的交感神经末梢受到刺激,产生交感神经功能紊乱的表现。由于椎动脉表面富含交感神经纤维,当交感神经功能紊乱时常常累及椎动脉,导致椎动脉的舒缩功能异常。除眩晕表现,还可伴有交感神经所支配的全身各个系统的功能失调,包括心血管消化道、视觉、听觉、位置觉、体温调节等功能紊乱。临床常见恶心、呕吐等,颈枕部痛为颈部神经根刺激症状。上诉症状每于头部过伸或旋转时出现,转颈诱发眩晕是主要的体征。



图2﹒7‐4病理结果



图2﹒7‐5病理结果



图2﹒7‐6病理结果



图2﹒7‐7病理结果



图2﹒7‐8肿瘤组织HE染色

后颅凹肿瘤可直接压迫前庭神经中枢出现眩晕,引起高颅压症状,出现头痛、恶心、呕吐。该患者在当地因头晕就诊,颈椎MR检查、TCD检查发现有颈椎病变,血管狭窄痉挛,容易被诊断为颈椎病椎动脉型,忽视如眼震、共济失调等神经系统阳性体征以致延误头颅MRI检查及后颅凹肿瘤的诊断。

髓母细胞瘤是好发于儿童的小脑恶性肿瘤,占全部颅内肿瘤的1.5%~4.6%,成人髓母细胞瘤占颅内肿瘤的1%。多数文献报告男性超过女性,比率2∶1。成人髓母细胞瘤好发年龄为20~40(平均28)岁,占80%,50岁以上者罕见。病程一般较短,髓母细胞瘤患者年龄愈大,病程愈长[1]。

髓母细胞瘤应作为成人颅后凹占位的鉴别诊断之一。成人髓母细胞瘤临床表现与儿童相似,主要为颅内高压和小脑损害的症状和体征,如头痛、恶心、呕吐和共济失调等[2]。本例以发作性头晕为首发症状,外院根据颈椎MRI C3~4、C4~5、C5~6椎间膨隆变性考虑颈椎病,给予理疗治疗无效。病情逐渐加重出现高颅压症状明显后方再次就诊。首发症状单纯头晕易延误诊断,神经系统体征及必要的影像学检查是避免误诊的重要手段。

髓母细胞瘤磁共振检查为孤立的增强肿块,T1WI低或等信号,T2WI稍高信号,周围有水肿带。增强扫描后成人可不均一强化,儿童均一强化。成人髓母细胞瘤组织学常分为经典型和促纤维增生型两种,文献报告后者占多数。经典型者由于可以见到Homer‐Wright菊形团,容易辨认;促纤维增生型中纤维组织增生,导致瘤细胞排列呈流线形、漩涡状等形态,有时会误诊为其他肿瘤。加做网状纤维和Syn、NSE、GFAP免疫组化染色有助于判断特殊形态髓母细胞瘤及有无神经元、胶质细胞分化。Syn、NSE阳性以及电镜下轴突样突起、神经分泌颗粒是神经元特有结构;GFAP阳性以及电镜下胶质细丝是胶质细胞特有结构。

本例患者病理网织纤维染色(+),诊断为促纤维增生型。免疫组化染色Neu‐N(+)、Syn(+)提示肿瘤细胞有神经元分化。GFAP(-)提示无胶质细胞分化。

虽然小脑髓母细胞瘤多见于儿童,成年人亦可患髓母细胞瘤,且术前难以确诊,成年人小脑占位病变不能排除髓母细胞瘤,对考虑为小脑胶质瘤者要注意与髓母细胞瘤鉴别。小脑髓母细胞瘤增大明显可引起枕骨大孔疝,早期明确诊断、手术治疗可降低死亡率。

手术辅以放疗仍是治疗髓母细胞瘤的主要手段。髓母细胞瘤对放疗极敏感,除肿瘤根治性切除外,术后脑、脊髓全神经轴放疗是另一个最重要的预后因素。化疗可缓解病情,特别是转移和复发病例[3,4]。髓母细胞瘤为中枢神经系统高度恶性肿瘤,预后差,但成年患者预后优于儿童。手术后1年生存率为82.2%,5年为27.2%。肿瘤位于小脑蚓部、全切除加放疗预后好,组织学类型为促纤维增生型者预后明显好于经典型[5]。该患者行肿瘤根治切除术术后辅助放疗,随访至今3年余一般情况良好。


作者:张微微 戚晓昆

页码:124-131

出版:人民卫生出版社

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    2017-08-08 luominglian113

    学习了,谢谢分享

    0

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    2017-08-07 攀少

    感谢分享

    0

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    2017-08-07 虈亣靌

    学习了受益匪浅。

    0

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    2017-08-06 QQ25ed180f

    头晕查因的病人很多,注意症状和体征的检查,不能忽略辅查

    0

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    2017-08-06 ylzr123

    认真学习,不断进步,把经验分享给同好。点赞了!

    0

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    2017-08-05 189****7206

    学习了谢谢分享

    0

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    2017-08-04 虈亣靌

    不错的,学习了!谢谢分享!

    0

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近日,来自斯坦福大学等处的研究者通过研究发现了常见的儿童脑瘤-髓母细胞瘤相关的基因突变,这就为相关的疾病治疗提供了一定的治疗建议,相关研究成果刊登在了国际著名杂志Nature上。 研究者Yoon表示,我们希望将髓母细胞瘤视为一种常见的疾病,而不是在分子水平来考虑如何治疗这种肿瘤。这种疾病起源于小脑,每年在美国影响很多儿童的健康,当前的疗法通过尽可能去除脑部的肿瘤来进行治疗,随后病人会进行发射化疗

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