I型神经纤维瘤病脊柱侧后凸并椎体完全脱位:1例

2019-06-12 潘俊杰 王兵 陈钰琳 中国矫形外科杂志

患者,女,17岁。出生时正常,儿童时期生长发育落后于同龄儿童,6岁时因发现脊柱畸形伴全身多发咖啡样斑点至医院就诊,行相关检查和基因筛查,具体结果及治疗不详,随后未引起重视。近十年来脊柱畸形逐渐加重并影响生活质量,但均未出现相应脊髓及神经损伤情况。入院前10d左右,患者晨起时感觉下肢无力及麻木,随后症状逐渐加重送至本院神经内科就诊,转诊前的2周内,患者下肢无力及麻木情况进行性加重。患者家族中无类似病

病例报告

患者,女,17岁。出生时正常,儿童时期生长发育落后于同龄儿童,6岁时因发现脊柱畸形伴全身多发咖啡样斑点至医院就诊,行相关检查和基因筛查,具体结果及治疗不详,随后未引起重视。近十年来脊柱畸形逐渐加重并影响生活质量,但均未出现相应脊髓及神经损伤情况。入院前10d左右,患者晨起时感觉下肢无力及麻木,随后症状逐渐加重送至本院神经内科就诊,转诊前的2周内,患者下肢无力及麻木情况进行性加重。患者家族中无类似病史,其弟弟健康状况良好,无类似病史,入院体格检查发现重度营养不良伴脊柱严重畸形,体重38kg,身高133CM,BMI21.4kg/m2,生命体征正常,全身多发大小不一的牛奶咖啡斑和腋下及腹股沟区可见色素沉着雀斑。头颈向右侧偏斜,脊柱胸段左后凸出,肩部偏斜胸廓明显畸形。神经系统检查:双上肢正常,双下肢运动功能减退伴腹部剑突以下感觉功能减退,双侧踝阵挛阳性,双侧Babinski征阳性,双下肢肌腱反射亢进,病理征阳性。

完善相关影像学检查,脊柱全长正侧位及Bend?ing位X片可见胸段明显的脊柱侧后凸畸形(图1);胸椎CT平扫和三维重建可见清晰的T4、T5椎体完全脱位和明显的侧后凸畸形(图2),伴有肋骨头铅笔样变、肋骨头顶端嵌入椎管、椎间孔扩大等特征性改变,依据上述病史及检查,确立了由I型神经纤维瘤病性营养不良型脊柱侧后凸畸形伴椎体完全脱位引起的脊髓损伤的术前诊断



充分术前准备和规划后,通过脊柱后外侧入路手术进行神经减压,截骨矫形和重建脊柱稳定,术中神经肌电生理监测和自体血回输。为避免术中脊髓损伤手术分5步进行:(1)利用术前打印的3D等比例模型导板引导下植入椎弓根螺钉;(2)切除双侧肋骨头及部分肋骨,行胸廓成形;(3)切除T4~T6后方的椎板及椎弓根,彻底解除脊髓后方压迫;(4)潜行剥离胸膜,经后外侧入路切除完全脱位并列的T5全椎体;(5)通过旋棒法缓慢矫形,T4/T6加压融合固定,再于后方植骨融合(如图3),手术过程顺利,患者返回病房。



术后病情平稳,经积极常规治疗,术后第5d脊髓损伤症状好转,术后第8d症状完全消失,浅感觉恢复正常,腱反射正常,病理征阴性。复查术后影像学检查,术后10d胸腰支具辅助下床活动,感双下肢肌力可,搀扶行走约50m。术后1月复查,患者佩戴支具可进行日常活动。术后3月复查,患者生活正常。术后6个月复查影像学可见T4、T6椎体间少量骨桥通过,后方植骨骨桥形成,脊柱畸形无加重趋势(如图4)。在术后12个月的随访恢复正常,内固定及融合情况良好,无复发加重,定期随访。



综述与讨论

十四世纪德国病理学家Virchow就描述了神经纤维瘤病,之后,他的学生冯·雷克林豪森命名了该病。分为神经纤维瘤病I型(NF-I,周围型)和神经纤维瘤病II型(NFII,中枢型)。NF-II的特征是双侧听神经瘤,不伴原发性骨肌系统疾病。NF-I较常见,在全球每100万人中其发病率为1:3000~4000,全球所有种族和族裔群体中都有发现,约50%的病例会因自发基因突变而偶然出现,父系年龄偏高也导致基因突变。NF-I的病因与负责神经纤维蛋白生成的17号染色体长臂相连的肿瘤抑制基因缺陷有关,该基因较大,突变率高,临床表现差异较大;此外,该基因调控Ras蛋白,可累及多器官系统致临床表现各异。

大约50%的NF-I患者在儿童期会出现脊柱畸形和胫骨先天性假关节形成,70%需外科治疗。NF-I中2%~69%合并脊柱畸形,重度脊柱畸形中有2%~3%合并神经纤维瘤病。NF-I合并的脊柱畸形分为营养不良型和非营养不良型。非营养不良型脊柱畸形临床表现及处理类似于特发性脊柱侧弯,相关研究证明其疗效显著并趋于稳定,但需注意依从性。NF-I术后不融合率较高,超过55°~60°的畸形,应通过前方截骨矫形和后方坚强植骨内固定恢复脊柱稳定。

营养不良型罕见并棘手,可能合并矢状面畸形,甚至是椎体脱位,本病例中的T4、T5椎体完全脱位实属罕见。肋骨头铅笔样改变是影响NF-1营养不良型脊柱侧凸渐进性进展和临床灾难性恶化倾向的因素,小于20°的畸形积极随访;20°~40°的畸形可进行手术并自体植骨,因椎弓根发育畸形置钉困难(故本文采用3D打印椎弓根导板引导置钉),前后联合可以预防旋转。畸形超过40°时,前后路椎管融合术可用于矫正畸形、稳定力线并降低假关节发生的风险。

本病例中,由于T4/T5椎体完全脱位并列产生的骨性脊柱狭窄压迫扩张硬膜及脊髓、T2~T9脊柱侧后凸畸形牵拉脊髓及神经等受压引起神经症状,因此选择后外侧入路,进行减压、截骨矫形和重建脊柱稳定。在T5椎体完全切除后,将T4椎体下缘及T6椎体上缘加压融合,矫正畸形后椎板间植骨融合,重建稳定脊柱力线。本文描述的手术方案和过程,可能适用于治疗I型神经纤维瘤病性营养不良型脊柱侧后凸畸形伴椎体完全脱位。

本文报告了1例罕见的I型神经纤维瘤病性营养不良型脊柱侧后凸畸形并椎体完全脱位案例,采用后外侧全脊椎截骨(VCR)矫形内固定的手术方式治疗,这需要依据病情设计个体化手术以避免术中脊髓损伤。本文描述了手术方案及简要过程,并认为该术式值得临床借鉴,但与其他术式相关性及可行性还需大样本资料对比统计分析。

原始出处:

潘俊杰,王兵,陈钰琳,陈凌强,龚志强,赵冲宇,何卫.Ⅰ型神经纤维瘤病脊柱侧后凸并椎体完全脱位:1例报道与综述[J].中国矫形外科杂志,2019,27(09):819-823.

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