The characteristics of thoracic insufficiency syndrome associated with fused ribs and congenital scoliosis

1. Thoracic insufficiency syndrome is the inability of the thorax to support normal respiration or lung growth. 2. The rare condition of fused ribs and congenital scoliosis may result in a three-dimensional thoracic deformity with adverse effects on thoracic growth and function with development of thoracic insufficiency syndrome. 3. The normal thorax is defined by two characteristics: normal, stable volume and the ability to change that volume. Volume depends on the width and depth of the rib cage, and the thoracic spine provides height. The ability to change volume, termed thoracic function, is provided by the diaphragm and the secondary muscles of respiration. 4. On radiographs, the loss of the vertical height of the lung of the concave, restricted hemithorax is defined by the percentage of space available for the lung. 5. Spine rotation causes a windswept thorax, with both restriction of the volume of the convex hemithorax and restriction of the motion of the involved ribs. 6. Constrictive three-dimensional deformity of the thorax may cause extrinsic, restrictive lung disease. 7. Progressive thoracic insufficiency syndrome is diagnosed on the basis of clinical signs of respiratory insufficiency, loss of chest wall mobility as demonstrated by the thumb excursion test, worsening indices of three-dimensional thoracic deformity on radiographs and computed tomography scans, or a relative decline in percent predicted vital capacity due to thoracic "failure to thrive," as demonstrated by pulmonary function tests. 8. Treatment of progressive thoracic insufficiency syndrome should provide an acute increase in the thoracic volume with stabilization of any flail chest-wall defects and maintain these improvements as the patient grows, without the need for spine fusion.     

Treatment of congenital thoracic scoliosis with associated rib fusions using VEPTR expansion thoracostomy: a surgical technique

European Spine Journal - Untreated growing patients with congenital scoliosis and fused ribs will develop finally thoracic insufficiency syndrome. The technique of expansion thoracoplasty with...     

The vertical expandable prosthetic titanium rib implant for the treatment of thoracic insufficiency syndrome associated with congenital and neuromuscular scoliosis in young children

Expansion thoracoplasty and vertical expandable prosthetic titanium rib (VEPTR; Synthes Spine Co., West Chester, Pennsylvania, USA) implantation is a new method for the treatment of thoracic insufficiency syndrome and congenital spinal deformity in children. The longitudinal rib implant expands the thorax and indirectly corrects spinal deformity, thus allowing spinal, thoracic and probably lung growth. VEPTR has been used since 1989 in San Antonio, USA, and was introduced to Europe in 2002. This paper describes the preliminary experience with the European patients. Fifteen children with progressive scoliosis had a VEPTR implantation at a mean age of 6 years (11 months to 12 years). Nine children had thoracic insufficiency syndrome due to unilateral unsegmented bars (n = 4), absent ribs (n = 1), hemivertebrae (n = 2) or bilateral fused ribs (n = 2). Six children had severe thoracolumbar scoliosis and pelvic obliquity due to neuromuscular scoliosis. After VEPTR implantation, families and patients reported improvement of the thoracic insufficiency syndrome and better sitting abilities in the neuromuscular patients, as well as radical cosmetic improvement. There were three complications (skin breakage, lumbar hook displacement, rib fracture) after performing fifteen primary VEPTR implantations and 13 expansion surgeries in eight patients. Our experience suggests that expansion thoracoplasty and VEPTR implantation is a safe and efficient method for the treatment of thoracic insufficiency syndrome in young children with severe scoliosis.     

先天性脊柱侧凸患者中肋骨畸形和椎管内畸形的特点

目的 探讨先天性脊柱侧凸患者的各类脊椎畸形、肋骨畸形与椎管内畸形的特点及发生情况.方法 回顾性分析2010年1月至2011年3月手术治疗的先天性脊柱侧凸患者118例,男性52例,女性66例;年龄3～50岁,平均(14±7)岁.统计椎管内畸形、肋骨畸形的总体发生比例及各自的好发部位,运用x2检验分析不同类型脊椎畸形、肋骨畸形与椎管内畸形的伴发情况.结果 118例先天性脊柱侧凸患者合并椎管内畸形57例(48.3％),多种畸形常并发存在,以脊髓纵裂(32.2％)和脊髓空洞症(21.2％)最为多见.合并肋骨畸形69例(58.5％),以凹侧为多见(68.1％,47/69).椎管内畸形的发生率在混合型脊柱侧凸(58.3％,35/60)和多脊椎畸形(54.8％,51/93)的患者中较高(x2= 14.05和27.50,P＜0.01).伴有肋骨畸形的先天性脊柱侧凸患者中有椎管内畸形的42例(60.9％),无椎管内畸形的27例(39.1％),不伴有肋骨畸形的先天性脊柱侧凸中有椎管内畸形的15例(30.6％),两组相比椎管内畸形的发生率差异有统计学意义(x2= 10.5,P＜0.01).结论 先天性脊柱侧凸伴发的椎管内畸形以脊髓纵裂和脊髓空洞为多见;肋骨畸形多发生于混合型脊柱侧凸及多脊椎畸形患者,以凹侧多见.脊椎畸形的类型及是否伴有肋骨畸形对椎管内畸形的诊断有重要的提示意义.椎管内畸形与脊椎畸形的好发部位相似,但各种椎管内畸形、脊椎畸形间缺少显著的、特定的对应关系.     

单纯后路半椎体切除楔形截骨治疗先天性脊柱侧凸

目的 探讨单纯后路半椎体切除楔形截骨治疗先天性脊柱侧凸的治疗效果.方法 回顾性研究采用后路半椎体切除楔形截骨治疗先天性脊柱侧凸11例,对于重度僵硬的病例结合后路广泛松解.依据患者的影像学资料,并发症的发生情况等评估临床效果.结果 脊柱侧凸的主弯平均Cobb角为74°(62°～95°),术后矫正率为60%(48%～73%).后凸平均Cobb角为52°(40°～72°),术后矫正率为51%(41%～69%),手术前的冠状面失衡约19mm,术后为8mm,手术无任何严重并发症发生.结论 单纯后路半椎体切除楔形截骨治疗先天性脊柱侧凸疗效满意,对于重度僵硬的病例后路广泛松解效果较好.     

先天性脊柱侧凸伴截瘫的治疗

目的探讨２例脊柱侧凸致截瘫原因及治疗方法。方法例１行侧前方椎管减压同时切除后凸椎体后缘，凹侧哈氏棒矫形并植骨融合。例２首先经胸修补膨出的硬脊膜，再行Ｕ型棒矫形术。结果脊柱矫形术后侧凸畸形分别为Ｃｏｂｂ角５°，２０°，神经症状完全消失。结论对脊柱侧凸合并截瘫，椎管减压＋矫形术是有效的疗法     

The incidence of Klippel-Feil syndrome in patients with congenital scoliosis and kyphosis

A retrospective review of the radiographs of 1215 patients with congenital scoliosis and kyphosis disclosed 298 (25%) to have segmentation defects in the cervical spine. A single level defect was seen in 82 patients, 52 of which were at C2-C3. Of the 298 patients, 235 had scoliosis, (6 cervical, 42 cervicothoracic, 75 thoracic, 4 thoracolumbar, and 1 lumbar), 36 had kyphoscoliosis, 10 lordoscoliosis, and 17 pure kyphosis.     

先天性脊柱侧凸合并椎管内占位的诊断和治疗

目的 :探讨先天性脊柱侧凸合并椎管内占位的发病率、临床表现、影像学特征及手术治疗效果。方法 :回顾性分析2007年1月~2016年6月于西京医院骨科接受手术治疗的495例先天性脊柱侧凸患者的临床资料,其中7例合并椎管内占位。男5例,女2例;年龄11~31岁,平均19.14±7.52岁。MRI检查示7例全部位于胸段椎管内。5例位于髓内,1例位于髓外硬膜内,1例髓内及髓外硬膜内均有侵及。根据患者临床表现及影像学特征,诊断为先天性脊柱侧凸合并椎管内占位。7例患者均行一期后路脊柱侧凸矫形及椎管内占位切除术。随访观察治疗效果,疗效评价指标包括侧凸矫正率、手术并发症、椎管内占位复发情况。结果:术后随访27~99个月,平均49.7±32.9个月。先天性脊柱侧凸合并椎管内占位患者占本单位先天性脊柱侧凸患者的1.41%。术前行MRI检查,椎管内占位均准确定位;4例定性诊断与术后病理诊断一致。7例均行术后病理学检查,示畸胎瘤2例,表皮样囊肿2例,皮样囊肿1例,支气管源性囊肿1例,毛细胞型星形细胞瘤1例。术后冠状面主弯矫正率(55.05±18.75)%,术后矢状面主弯矫正率为(41.53±19.43)%。末次随访未见明显矫形丢失。术后有1例患者出现暂时性神经损害,半年后恢复;1例患者术后出现脑脊液漏,引流7d后治愈。1例患者于术后5年随访时发现椎管内占位复发,再次行椎管内占位切除术。结论:先天性脊柱侧凸合并椎管内占位发病率低;临床表现、影像学检查及病理学检查对其诊断均有重要价值。一期手术治疗先天性脊柱侧凸合并椎管内占位是安全有效的。     

脊柱截骨术治疗合并脊髓纵裂伴脊髓拴系综合征的先天性脊柱侧凸

目的:探讨脊柱截骨术治疗合并脊髓纵裂伴脊髓拴系综合征的先天性脊柱侧凸的安全性和有效性。方法:回顾性分析2007年6月~2013年6月在我院采用脊柱截骨手术治疗的23例合并脊髓纵裂伴脊髓拴系综合征的先天性脊柱侧凸患者。其中男6例,女17例;手术时年龄16.9±3.4岁(10~23岁)。腰骶部疼痛8例,其中5例仅表现为腰骶部疼痛,神经功能损害18例。术前冠状位Cobb角95.4°±25.2°(65°~156°)。Ⅰ型脊髓纵裂9例,Ⅱ型脊髓纵裂14例。脊髓圆锥位置均在L3水平以下。对合并Ⅰ型脊髓纵裂伴脊髓拴系的患者,采用骨性纵隔切除、一期脊柱截骨矫形;合并Ⅱ型脊髓纵裂伴脊髓拴系的患者单纯行一期脊柱截骨矫形(未处理纤维纵隔)。其中行全脊椎截骨13例,经椎弓根截骨10例。术前、术后3个月和末次随访时分别测量患者侧凸Cobb角,并按脊柱裂神经功能评分(SBNS)分级评估神经功能恢复情况。结果:手术时间571.1±136.5min(310~835min);术中失血量4888.3±2482.3ml(500~9600ml)。随访38.9±18.3个月(24~79个月)。术后冠状面Cobb角33.7°±15.9°(3°~73°),较术前明显改善(P0.05),矫正率平均为(62.3±14.1)%;末次随访时冠状面Cobb角37.4°±17.2°(5°~82°),矫正率平均为(58.1±14.7)%,较术后平均丢失4.2°±2.3°,与术后比较无明显矫形丢失(P0.05),但与术前相比有明显改善(P0.05)。末次随访时,18例患者神经损害症状获得不同程度改善,其中13例术前SBNS神经功能分级为Ⅱ级者术后恢复至Ⅰ级;2例Ⅲ级恢复至Ⅱ级;另外3例神经损害评分提高,SBNS分级维持不变,脊柱侧凸畸形及局部疼痛明显好转。围手术期出现并发症5例,其中2例术后出现单侧下肢肌力下降,1例术后2周下肢肌力恢复至4级,另1例于术后3个月恢复至术前水平,术后2年随访肌力基本恢复正常;术中发现胸膜破裂1例,术后脑脊液漏1例、泌尿系感染1例。所有病例术后无伤口感染、假关节形成、内固定松动/断裂及永久性神经损害并发症。结论:脊柱截骨术治疗合并脊髓纵裂伴脊髓拴系综合征的先天性脊柱侧凸患者安全有效,且对神经功能恢复有促进作用。     

马凡综合征合并脊柱侧凸的手术矫治

目的评价脊柱后路矫形内固定植骨融合术治疗马凡综合征合并脊柱侧凸的治疗效果。方法马凡综合征合并脊柱侧凸患者12例,进行脊柱后路矫形内固定植骨融合术,术前脊柱侧凸主弯Cobb角62°~90°(71°±6°)。结果手术时间3.4~4.8(4.2±0.4)h,出血量550~920(690±117)m l。全部患者均获随访,时间0.9~4.8年,未发生神经及其它系统并发症。术后主弯Cobb角24°~37°(29°±3°),矫正率51%~65%(59%±4%),植骨全部融合,无假关节形成及断钉、脱钩发生。结论脊柱后路矫形内固定植骨融合术治疗马凡综合征合并脊柱侧凸,对侧凸矫形疗效满意。     

Health-related quality of life in children with thoracic insufficiency syndrome

BACKGROUND: The traditional techniques to treat thoracic insufficiency syndrome (TIS) are not able to stabilize or improve chest wall size or pulmonary function while allowing spine growth. To this end, vertical expandable prosthetic titanium rib (VEPTR) was specifically designed to treat TIS by allowing growth of the thoracic cavity and control/correction of spine deformity. The purpose of this study was to determine quality of life (QOL) of children with TIS and its impact on their parents before and after implantation of the VEPTR and also compare these results to those of healthy children. METHODS: As part of the original multicenter evaluation of the VEPTR, a Child Health Questionnaire (CHQ) was collected preoperatively on 45 patients who were subsequently treated with expansion thoracoplasty using the VEPTR. The average age was 8.2 +/- 2.6 years, and the parent form of the CHQ was filled out by the primary caretaker. Patients were divided into 3 diagnostic categories: rib fusion (n = 15), hypoplastic thorax syndromes (n = 17), and progressive spinal deformity (n = 13). RESULTS: There were significant differences between the study patients and healthy children in physical domains. Compared with parents of healthy children, parents of children with TIS experienced more limitations on their time and emotional lives due to their children's health problems. There were no significant differences in CHQ before and after the surgery except for a significant decrease in the self-esteem among a subgroup of patients with hypoplastic thorax syndromes. There were no significant differences in postoperative QOL between patients who had VEPTR-related complications and patients who did not have the complications. CONCLUSIONS: The children with TIS had lower physical scores and higher caregiver burden scores than healthy children. However, the scores in psychosocial domains were similar to those in healthy children. Our study demonstrated that QOL of children and burden of care in their parents remained the same after VEPTR instrumentation. Children's QOL seemed to be not affected by whether they had VEPTR-related complications or not.     

Congenital anomalies of the ribs and chest wall associated with congenital deformities of the spine

BACKGROUND: Congenital anomalies of the ribs and chest wall as well as Sprengel deformity of the shoulder are often associated with congenital deformities of the spine. It has been suggested that rib anomalies may adversely affect the progression of the spinal deformity. METHODS: We conducted a retrospective study of the medical records and spine radiographs of 620 consecutive patients with congenital deformities of the spine; 497 patients (80%) had scoliosis; eighty-eight patients (14%), kyphoscoliosis; and thirty-five patients (6%), kyphosis. The rib anomalies were classified into simple and complex, and the presence of a Sprengel deformity of the shoulder was recorded. The rate of scoliosis deterioration without treatment before the age of eleven years, as well as the patient age and curve size at the time of surgery, was compared for different types of vertebral abnormalities in patients with and without rib anomalies. RESULTS: A total of 119 patients (19.2%) had rib anomalies, which were most commonly associated with congenital scoliosis (111 patients; 93%) and were much less frequently associated with congenital kyphoscoliosis or kyphosis (eight patients). The rib anomalies were simple in ninety-five patients and complex in twenty-four. Eighty-five patients (71%) with rib abnormalities had a scoliosis due to a unilateral failure of vertebral segmentation, and seven patients had mixed or unclassifiable vertebral anomalies. In contrast, only sixteen of 203 patients with a scoliosis due to a hemivertebra alone had rib anomalies. The rib anomalies were most frequently associated with a thoracic or thoracolumbar scoliosis (102 patients; 92%) and occurred on the concavity in eighty-two patients (74%), the convexity in twenty-two patients (20%), and were bilateral in seven patients. The Sprengel deformity occurred in forty-five patients and most frequently in association with a thoracic scoliosis due to a unilateral failure of vertebral segmentation (twenty-seven patients). No significant difference was detected in the rate of curve progression without treatment in patients with and without rib anomalies. The only exception was the mean age at the time of surgery, which was higher for patients with a unilateral unsegmented bar without rib anomalies (p = 0.005). In addition, no significant difference was found with regard to any tethering effect due to the site of the rib fusions on the concavity of the scoliosis, i.e., whether they were in close approximation to the spine or were more lateral (p > 0.05). CONCLUSIONS: Congenital rib anomalies occur most commonly on the concavity of a thoracic or thoracolumbar congenital scoliosis that is due to a unilateral failure of vertebral segmentation, and they do not appear to have an adverse effect on curve size or rate of progression.     

先天性脊柱侧凸合并脊髓纵裂的手术治疗

目的 :探 讨先 天 性脊 柱侧 凸 合并 脊髓 纵 裂患 者的 矫 形手 术治 疗 方法 及效 果 。方 法:回顾 性 分析 31 例 先天性 脊柱 侧 凸合 并脊 髓 纵裂 患者 的 临床 资料 、手术 方 法 及 治疗 结 果 。 结果 :31 例 患 者中 合 并 骨 性纵 裂 4 例 ,纤维性 纵裂 23 , 例 混合 性 纵裂 例 纵 裂涉 及 胸段 4 , 10 ,例 腰段 例 胸 段 及腰 段 6 , 14 , 例 颈 段到 腰 段 例 1 。 矫形 手术方 法 包 括 前路 矫 形 内 固定 2 例 ,后 路 矫 形 内固 定 14 例 ,前 路 松 解 联合 二 期 后 路矫 形 内 固 定 10 例 ,一 期 前 后路半 椎体 切 除联 合后 路 矫形 内固 定 例 仅 例 患者 在 后路 矫形 手 术时 先行 切 除了 骨嵴 ,纤 维 性纵 裂均 未 予处 5 。 1理。 手术 前 、后 脊柱 侧 凸主 弯冠 状 面 Cobb 角、 顶椎 偏 距、 顶 椎 旋 转度 、 躯 干 偏移 平 均 分 别为65.4° 35.1° 和 ;51.2m m 和32.2m m ;1.3° 1.2°13.5m m 和 ; 和 8.9m m ,主弯冠 状 面矫 形率 平 均为 49.1%。术 后均 无 神经 功能 缺 陷发生或 神经 功 能缺 陷加 重 。结论 :根 据 合并 脊髓 纵 裂的 类型 、患 者的 神 经功 能状 态 选择 相应 的 治疗 方法 ,先 天 性脊柱侧 凸可 以 获得