先天性脊柱侧凸及其伴发畸形的研究

【作者】 薛旭红；

【导师】 沈建雄；

【作者基本信息】 北京协和医学院 ， 外科学（专业学位）， 2014， 博士

【摘要】 第一部分先天性脊柱侧凸伴肋骨及胸廓畸形的研究研究背景：先天性脊柱侧凸(congenital scoliosis, CS)常常伴有椎管内畸形、肋骨及胸廓畸形。CS伴发胸廓畸形不仅影响患者外观,更重要的是影响肺脏的正常生长发育,导致不可逆的肺功能损害。目前关于肋骨畸形研究则报道较少。对于脊椎畸形、肋骨畸形与椎管内畸形三者的关系,畸形好发部位等情况报道则更少。对胸廓畸形、肋骨畸形与肺功能的关系研究也较少。目的：明确以下四个问题：(1)CS患者肋骨畸形的发生率及特点；(2)CS中脊椎畸形、肋骨畸形与椎管内畸形三者的关系；(3)CS伴发胸廓畸形患者肺功能与胸廓畸形参数的相关性；(4)肋骨畸形与肺功能的关系。方法：收集2009年3月～2013年3月因CS在我院手术的患者的全脊柱X线平片、CT及MRI资料,统计肋骨畸形发生情况。对这些患者脊椎畸形合并肋骨畸形和椎管内畸形特点进行回顾性分析。收集同期伴有肺功能障碍的CS患者,分为临床相关肺功能损害及无肺功能损害两组,将肺功能指标与胸廓参数进行相关分析。同时分析各年龄组是否合并肋骨畸形患者术前肺功能参数的差异。结果：515例CS患者中,252例伴有肋骨畸形,发生率为48.9%,以凹侧多见,共158例(62.7%,158/252)；简单型137例(26.6%),复杂型115例(22.3%)。肋骨畸形中结构异常179例(34.8%),数量异常120例(23.3%)。肋骨畸形好发于下胸段(38.1%,96/252)及中下胸段(21.0%)。简单型肋骨畸形多见于单一区域,而复杂型则多见于两个及以上区域同时发生(P<0.01)。融合肋为最常见的肋骨结构异常(62.0%,111/179,),少肋在下胸段多见。CS患者中,椎管内畸形的发生率为37.1%(191/515),其中脊髓空洞症96例次(18.6%),脊髓纵裂125例次：膜性92例次(17.9%),骨性16例次(3.1%),膜性与骨性同时存在17例次(3.3%)。多种畸形常并发存在,以脊髓纵裂和脊髓空洞并发最为多见。肋骨畸形的发生与椎管内畸形的发生有显著差异,CS合并肋骨畸形患者伴发椎管内畸形的几率更大,且多见于复杂型。CS患者FEV1、FVC与胸主弯Cobb角,主弯椎体数及胸廓矢横径呈显著性负相关(r=-0.16--0.52),而与左右胸廓高度呈显著性正相关(r=0.27～0.31)。T1-12高度与患者年龄、身高、体重、胸廓横径及胸廓矢纵径呈显著性正相关(r=0.22～0.74)；而与胸主弯Cobb角、主弯椎体数、胸后凸Cobb角呈显著性负相关(r=-0.22～-0.29)。A组与B组相比,T1-12高度、胸廓横径及胸后凸Cobb角有显著差异(P<0.05)。A患者T1-12高度变小,横径变大,胸后凸更大。年龄8-18岁组有无合并肺功能损害比较发现T1-12高度、胸廓横径及术后胸后凸Cobb角有显著差异(P<0.05)。合并肋骨畸形的CS较无肋骨畸形患者肺功能更差,尤其是合并有并肋,融合肋的患者(P=0.016和0.014)。然而,肺功能与肋骨畸形的发生部位无明显相关(P>0.05)。结论：CS常合并椎管内畸形和肋骨畸形,肋骨畸形的发生率为48.9%。不同类型CS中椎管内畸形及肋骨畸形的发生率有显著差异；CS中不同椎体累及程度与椎管内畸形及肋骨畸形的发生都有显著差异。合并肋骨畸形的CS更易伴发椎管内畸形。CS患者肺功能与胸主弯Cobb角,主弯椎体数及胸廓矢横径呈负相关,而与左右胸廓高度正相关。合并临床相关肺功能患者T1-12高度变小,横径变大,胸后凸更大。合并肋骨畸形尤其是融合肋的CS患者肺功能更差。第二部分：先天性脊柱侧凸伴脊髓纵裂的研究研究背景：脊髓纵裂(SCM)是一种罕见的先天畸形,但在CS中比较常见。关于CS类型与SCM发生部位、受累节段的关系仍不明确,SCM的自然发病史目前尚不清楚,而且SCM可能在一生中保持稳定。外科手术不一定能改善神经系统症状,骨棘切除后可能再生,分期手术导致矫形更加困难。脊柱矫形手术过程中不去除骨棘或纤维纵膈是否可行,目前对其安全性及有效性研究较少。目的(1)分析先天性脊柱侧凸伴发脊髓纵裂的临床及影像学特点；(2)比较SCM Ⅰ和SCM Ⅱ型脊髓纵裂的特点、手术治疗及疗效分析；(3)比较是否行预防性骨嵴切除的SCM Ⅰ型脊髓纵裂CS患者的手术效果、随访情况及并发症分析。方法回顾性研究2000.3～2013.3年间我院收治的238例CS并SCM患者的临床资料,术前均行全脊柱MRI、CT扫描,将所得常规体格检查及影像学检查资料进行分析CS合并脊髓纵裂畸形的影像学特点及临床表现。根据Pang分型分为SCM Ⅰ和SCMⅡ两组,对两组患者手术方式,结果,并发症发生及随访情况进行对比研究。结果脊髓纵裂238例,女性168例(73.30%),男性70例(26.7%)。SCM Ⅰ型89例(37.4%)。SCMⅡ型149例(63.6%)。合并椎板畸形153例(64.3%),半椎体71例(29.8%),肋骨畸形128例(53.8%)。临床表现主要有：142例(59.7%)同时存在其他椎管内畸形,包括脊髓空洞56例(23.5%)、脊髓栓系52例(21.8%)、低位脊髓20例(8.4%)等。椎管外畸形17例：6例合并心脏异常(6.7%),11例泌尿系异常(4.6%)。背部毛发31例,跛行11例,运动耐力下降11例,腰背痛9例,截瘫5例。双下肢/双足异常20例,神经系统体格检查有阳性体征45例。膜性纵裂好发于胸段,而骨性纵裂在胸段及腰段两部位同时发生的几率更大(P=0.000)。椎板畸形、半椎体及肋骨畸形的发生在两种SCM中也无显著差异。两组在手术时间,术中出血量,术中自体回输血及异体输血方面均无显著差异。但在术后即刻矫形率及末次随访矫形率方面有显著差异,SCM Ⅰ组神经系统并发症发生率更高。预防性切除骨嵴与不切除骨嵴两组对比,在手术时间,出血量,术后即刻矫形率,末次随访矫形率,TS,AVT,术后并发症,神经系统并发症方面均无明显统计学差异。结论先天性脊柱侧凸合并脊髓纵裂多合并有背部皮肤异常及下肢神经缺陷。SCM多位于下胸段及腰段,膜性纵裂累及节段显著多于骨性纵裂。Ⅱ型SCM术后即刻及末次随访矫形率均优于Ⅰ型,而Ⅰ型SCM组神经系统并发症发生率更高。合并SCM的CS,如果无症状或合并稳定的神经系统症状,可以在不切除纵隔的情况下获得良好的矫形而避免神经损伤并发症的发生。第三部分先天性脊柱侧凸伴klipple-Feil综合征的研究研究背景:Klippel-Feil综合征是一组以颈椎形成及分节障碍为特征的先天性畸形,又称短颈畸形。除了颈椎畸形外常合并其他系统器官的异常。先天性脊柱侧凸为最常见的伴发畸形,目前对CS伴发Klippel-Feil综合征的临床表现及影像学特征研究较少。目的：研究CS伴发Klippel-Feil综合征的临床表现及影像学特征；进一步分析其合并脊柱及脊柱外畸形的发生情况。方法：回顾性研究2009.1～2013.3年间我院收治的515例CS患者的临床资料,术前均行全脊柱MRI、CT扫描,将所得常规体格检查及影像学检查资料进行分析CS合并Klippel-Feil综合征的影像学特点及临床表现。根据颈椎畸形的位置分为高位(O-C2),中位(C2-C4)及低位畸形(C4-T1),对合并及其畸形的患者研究其伴发脊柱及脊柱外畸形的发生情况。结果：总体上,28例CS患者合并有KFS,发生率为5.42%。男性8例,女性20例,平均年龄,颈椎冠状面角度平均为20.6。,矢状面角度平均为29.9。KFSⅠ型有14例(50.0%),型有6例(21.4%),型有8例(28.6%)。先天性颈椎融合多见于中位及低位颈椎区域(85.7%,24/28)。在28例KFS中,11例合并有椎管内畸形,6例合并有骨骼外畸形,13例合并有肋骨畸形。肋骨畸形的发生于KFS无明显相关(P>0.05)。一半患者伴有半椎体畸形,但是半椎体的发生于KFS也无明显相关(P>0.05)。结论：在CS患者中KFS的发生率为5.42%,先天性颈椎融合在中低位颈椎区域更常见。合并KFS的CS患者肋骨畸形,椎管内畸形及半椎体的发生率并没有增加。第四部分：椎弓根螺钉对儿童椎体及椎管发育影响的研究研究背景：动物实验研究表明,儿童椎弓根对椎管及椎体发育有迟滞效应,那么人体应用椎弓根螺钉对椎体的椎管发育的影响如何呢?目的：研究椎弓根螺钉在7岁以下儿童未成熟脊柱应用的可靠性,评估椎弓根螺钉对随访2年以上的儿童椎管及椎体的影响。方法收集我院2003年1月～2010年12月收治的35例,小于7岁的儿童患者,其中男16例,女19例；年龄23～84个月,平均53个月(4.4岁),均因先天性脊柱侧凸在我院行手术治疗并随访2年以上。将这些患者术前,术后及随访时X线片,CT进行分组测量。通过测量椎体及椎管正侧位X线参数,分别比较置螺钉椎体与邻近未置螺钉椎,单侧螺钉与双侧螺钉,融合范围内与融合范围外未置钉椎参数变化,并用部分有完整CT资料病例检验X线测量的准确性,明确椎弓根螺钉是否影响儿童椎管及椎体发育。结果35例患者共有212颗椎弓根螺钉植入,其中4例有术后及随访CT。随访时年龄：47-167月,平均105.3±7.2月；随访时间：25-97个月,平均52.3±5.1月；总体上190节段纳入测量,其中77节段无螺钉,113节段有螺钉；99节段双侧螺钉,14节段单侧螺钉。总体上：胸段与腰段有螺钉组与无螺钉组相比：椎体及椎管各参数无统计学差异。有螺钉组胸段与腰段相比发现侧位椎间隙高度、投影面积,正位椎体高度及投影面积有明显差异：腰椎均大于胸段(腰椎椎体的生长速度快于胸椎)；无螺钉组胸段与腰段相比仅侧位投影面积腰段大于胸段。单侧螺钉组与双侧螺钉组相比无统计学差异。融合范围内椎体组与融合范围外椎体组相比,仅椎间隙高度有差异。结论椎弓根螺钉对儿童椎体及椎管的发育并没有迟滞效应,椎弓根螺钉技术对儿童脊柱是一项可靠的内固定技术。更多还原

【Abstract】 Part I Rib and cage deformities in congenital scoliosisSummary of Background Data Rib deformities and intraspinal anomalies often co-exist in individuals with congenital scoliosis (CS). Rib deformities may assist in diagnosing occult anomalies in these patients. The incidence of rib anomalies in patients with CS and the relationship between rib and vertebral abnormalities have not been reported. CS may progress rapidly in patients with thoracic cage or rib deformities. Few reports have evaluated the association among the pulmonary function, thoracic and rib deformities in CS patients.Objective (1) To identify the incidence and characteristics of rib anomalies in patients with CS;(2) To determine the relationship of thoracic cage parameters and preoperative pulmonary function tests (PFTs) in CS patients;(3) If patients with rib deformity have greater impairment of PFTs than those without rib deformity.Methods We conducted a study of515patients who underwent surgery for CS at one spine center between Jan2009and Mar2013. Rib anomalies included numerical and structural changes, which we classified as simple or complex. The incidence and associations of rib, vertebral, and intraspinal abnormalities in these patients were analyzed. A total of218patients with CS and pulmonary dysfunction (FVC<80%) was conducted in the same period. The demographic distribution, medical records, PFTs and radiographs of all patients were collected. The association of PFTs and thoracic cage deformities was analyzed.Results Of the515patients,252(48.9%) had rib anomalies, including120(47.6%) with numerical variation and179(71.0%) with structural changes. Missing ribs were most common, constituting45.2%of anomalies (114/252). Fused ribs were the most common structural change (62.0%). Rib changes were most common in patients with thoracic and thoracolumbar vertebral anomalies, and occurred most frequently on the concavity of the scoliosis (62.7%) and in the lower thoracic region (40.9%). The incidence of intraspinal anomalies was37.1%(191/515), and these were most common in patients with thoracic vertebral anomalies, and with upper and middle thoracic rib anomalies.In total,143patients (65.6%) had a clinically relevant impairment of pulmonary function. They had smaller BMI, larger thoracic transverse and anteroposterior diameter, more thorax height, scoliotic angle and number of involved vertebra than no clinically impairment. PFTs were significant negative correlation with scoliotic angle, number of involved vertebra and thoracic sagittal diameter, while thorax height is significant positive. PFTs do not correlate with T1-12height, but significantly associated with the rib anomalies. The FVC and FEV1were significantly lower in patients with rib anomalies than without rib anomalies.Conclusions The incidence of rib anomalies was48.9%in surgical CS patients. The type of rib abnormality varied with vertebral anomaly location and type. The incidence of intraspinal anomalies was significantly higher in patients with than in those without rib anomalies. PFTs correlate significantly with scoliotic angle, number of involved vertebra, thoracic sagittal diameter and thorax height. PFTs were significantly lower in patients with rib anomalies, particular to the patients with fused rib.Part Ⅱ Split spinal cord malformations in congenital scoliosisSummary of Background Data Split spinal cord malformations(SCM) is a rare entity, which presents distinct clinical characteristics and requires different managements compared with other more common occult spinal dysraphism.Objective To analyze the patients of SCM in congenital scoliosis(CS) for their clinical features, radiological findings and outcome of surgery, which can throw light on the subject to others, who have less scope of finding these cases frequently.Methods A total of238patients with SCM were operated on at our centre between Mar2000and Mar2013. Patients’ demographic profile, radiological and operative details, complications and surgical outcome were evaluated retrospectively.Results The mean age of the patients was14.1years and the female to male ratio was2.4:1. The dorsolumbar and lumbar regions were the most common sites for type Ⅰ SCM, while thoracic regions were the most common sites for type Ⅱ SCM. Eighty-nine patients had type Ⅰ SCM and149had type Ⅱ SCM. One or more skin stigmata were present in6cases, hypertrichosis being the most common (13.0%,31/238). Asymmetric weakness of the lower limbs and neural axis abnormalities were present in20and18.9%cases, respectively.145patients were other intraspinal abnormalities (59.7%), including syringomyelia in56(23.5%), tethered cord in52 (21.8%), low conus in20(8.4%).153patients exhibited lamina deformities(64.3%),71exhibited hemivertebra(29.8%) and128exhibited rib anomalies(53.8%).The incidence of rib anomalies, hemivertebra and lamino deformities was no significantly difference between the SCM Ⅰand SCMII (P<0.05). There were no significantly difference in operation time, blood loss and cellsaver in two groups (P<0.05). However, the correction rate in post-operation and follow-up period were higher in SCM Ⅰ than SCM Ⅰ group(P=0.000). The complication rate in neural axis was more higher in in SCM Ⅰ than SCM Ⅰ group(P=0.000). Comparing prophylactic surgery group to no prophylactic group, there were no significantly difference in operation time, blood loss, cellsaver, correction rate and complication rate (P>0.05).Conclusions SCMs are rare malformations of the spinal cord. We present the largest series so far reported in the world literature. The correction rate in post-operation and follow-up period were higher in SCM Ⅱ than SCM Ⅰ group. The complication rate in neural axis was more higher in in SCM Ⅰ than SCM Ⅱ group. For the CS patients with SCM, if neurological sign is stable, remove of bone spicule or fibre band may not be necessary before the scoliosis correction.Part Ⅲ Klippel-Feil syndrome in congenital scoliosisSummary of Background Data Klippel-Feil syndrome(KFS) is an uncommon condition, characterized as improper segmentation of one or more cervical spine segments."Scoliosis" is potentially the most common manifestation associated with KFS. However, the clinical manifestations and radiological characteristics of KFS in CS patients are less reported.Objective To investigate the clinical manifestations and radiological characteristics of KFS in CS patients. To identify the incidence of spinal or extraspinal abnormities in KFS.Methods A total of515patients with CS from Jan2009to Mar2013were identified from a single institution. The demographic distribution, clinical and radiographic data were collected. Cervical regions were also designated as high (O-C2), mid (C2-C4), and low (C4-T1). The Patients with other deformities to investigate the incidence of intra-and extra-spinal abnormalities associated with KFS. Results In total,28(5.42%) had been identified KFS, which included8males and20females. The mean coronal cervical alignment was20.6°and saggital alignment was29.9°. KFS type I was found in14patients (50.0%), type Ⅱ in6(21.4%), and type Ⅲ in8(28.6%). Congenitally fused cervical segment are more common in the mid and lower cervical spine region(85.7%,24/28). In the28KFS patients,11have intraspinal anomalies(32.1%) and6have extraskeletal anomalies(21.4%). Thirteen patients(46.4%) exhibited rib anomalies. The incidence of rib anomalies was no significant difference in CS patients with KFS and without KFS(P>0.05). A half of the KFS have hemivertebrae, however, the incidence of hemivertebrae was no statistically significant difference in CS patients with KFS and without KFS(.P>0.05).Conclusions The incidence of KFS was5.42%in CS patients. Congenitally fused cervical patterns are more common in the mid and lower cervical spine region. The incidence of and rib anomalies, intraspinal abnormities and hemivertebra was not increase in CS patients with KFS.Part IV The effect of pedicle screw on vertebra and spinal canal growth in children before the age of7yearsSummary of Background Data Pedicle screws are widely used in spinal surgery. There is a trend to use pedicle screws in pediatric patients with spi nal disorders. However, there have been few reports regarding the effect of pedicle screws on pedicle, vertebra and spinal canal of pediatric patients with spinal deformities.Objective To determine the reliability of pedicle screws placed in children younger than7years of age, and to evaluate the effect of pedicle screw insertion on further growth of the vertebra and spinal canal.Methods A retrospective study of35consecutive patients through Jan2003to Dec2010for congenital scoliosis in less than7years children was performed at one spine center. Patients undergoing pedicle screw instrumentation of at least2levels, which had been followed up for at least24months were included. Measurements were performed in instrumented and adjacent non-instrumented levels. The effect of pedicle screw insertion on further growth was evaluated.Results The average age at surgery was4.4year (53mo, range,23to84mo).190 segments in35patients met the inclusion criteria.77segments had no screws and113had at least1screw. There was a significant difference between the preoperative and final follow-up values of the measurement of spinal canal and vertebral body parameters (P<0.001). No significant difference existed between growth rates of vertebral bodies and the sagittal diameters of spinal canal with or without screws. The growth rates of vertebral bodies in lumbar spine were higher than in thoracic spine in both instrumented and adjacent groups.Conclusion Pedicle screw instrumentation does not cause a retardation effect on the development of vertebral bodies and the spinal canal in children at an early age. It is a safe and reliable procedure to achieve a stable fixation.更多还原