先天性脊柱侧凸伴发畸形的临床特点分析

Clinical characteristics analysis of anomalies associated with congenital scoliosis

背景:先天性脊柱侧凸(CS)常伴发其他系统畸形,包括脊髓、心脏、肾脏、消化道系统等。文献报道多局限于椎管内畸形和心脏畸形的发生率和分类,且研究报道的伴发畸形发生率差异较大。目的:总结CS伴发其他系统畸形的临床分布特点,探讨各系统伴发畸形之间可能的内在联系。方法:回顾性分析2014年1月至2016年1月接受手术矫形治疗的CS患者213例。所有患者术前均行全脊柱正侧位X线片、CT、MRI、肺功能、超声心动图及腹部超声检查,分析CS伴发畸形临床分布特点及联系。结果:68例(31.9%)CS患者合并椎管内畸形,发生率最高,以脊髓纵裂最常见。女性患者合并椎管内畸形发生率高于男性(P=0.017),CS合并椎管内畸形与患者年龄及体重指数(BMI)无关。不同类型CS中椎管内畸形发生率有显著差异(P<0.001),分节不良型CS患者合并椎管内畸形发生率明显高于形成障碍型(P=0.01)和混合型(P=0.01)。其他伴发畸形依次包括:31例(14.6%)合并心脏畸形,15例(7.0%)合并腹部/胃肠道畸形,13例(6.1%)合并泌尿系统畸形,9例(4.2%)合并骨骼肌肉畸形,3例(1.4%)合并眼部畸形。结论:CS合并椎管内畸形发生率最高;分节不良型CS患者有更高的合并椎管内畸形风险。CS常伴发脊髓、心脏、泌尿系统、骨骼肌肉及眼部等其他系统畸形,患者应进行全脊柱MRI、超声心动图、腹部超声检查全面评估伴发畸形情况。

Background:Congenital scoliosis(CS)is frequently associated with other organ defects,such as the intraspinal,cardiovascular,urinary,digestive system.Recent studies have been limited to the incidence and classification of intraspinal and cardiac malformations in CS,and the incidence of associated anomalies varies widely among former studies.Objective:To summarize the clinical distribution characteristics of organ anomalies associated with CS,and to explore the possible correlation between the malformations associated with CS.Methods:Clinical data of 213 CS patients treated surgically between January 2014 and January 2016 were retrospectively reviewed,including medical records,plain radiograph,CT,MRI of the whole spine,echocardiography,and abdominal ultrasound.Clinical distribution and association of anomalies associated with CS were analyzed.Results:Intraspinal abnormalities were found in 68(31.9%)patients,in which the most common was diastematomyelia.The incidence of intraspinal malformation in female CS was significantly higher than that in males(P=0.017).CS with intraspinal anomaly was not associated with age or body mass index(BMI).There was a significant difference among incidence of intraspinal anomaly in different types of CS(P<0.001).The incidence of intraspinal malformation was significantly higher in patients with segmental failure than that of formation failure(P=0.01)and mixed type(P=0.01).Other associated anomalies included cardiac malformations(31 patients,14.6%),abdominal/gastrointestinal malformations(15 patients,7.0%),urinary malformations(13 patients,6.1%),skeletal muscle malformations(9 patients,4.2%),and ocular deformity(3 patients,1.4%).Conclusions:Intraspinal anomaly is the most common defect in CS patients.CS patients with segmentation failure have a higher risk of intraspinal malformation.The high rate of associated anomalies makes MRI,echocardiography and abdominal ultrasound a critical part of evaluation for CS cases.