O'Brien Aaron, Roth Megan K, Athreya Hariharan, Reinker Kent, Koeck William, Patil Vishwas, Trevino Hope, Simmons James, Joshi Ajeya P, Smith Melvin D, Campbell Robert M
*Department of Orthopaedics, College of Medicine, University of Texas Health Science Center at San Antonio (UTHSCSA) †Spinal & Thoracic Treatment and Research (STTAR) Center, Children's Hospital of San Antonio §Pediatric, Orthopaedic, & Scoliosis Center of South Texas, San Antonio ‡University of Texas Medical School at Houston, Houston, TX ∥Division of Orthopaedics, Children's Hospital of Philadelphia, Philadelphia, PA.
J Pediatr Orthop. 2015 Dec;35(8):783-97. doi: 10.1097/BPO.0000000000000383.
Jeune syndrome (JS) often results in lethal thoracic insufficiency syndrome. Since 1991, vertical expandable prosthetic titanium rib Dynamic PosteroLateral Expansion Thoracoplasty was used at our institution for treatment of JS. This study assesses the safety and efficacy of this procedure.
Twenty-four JS patients were treated, 2 lost to follow-up, 17 with a minimum of 2-year follow-up retrospectively reviewed for clinical course: Assisted Ventilation Rate, respiratory rate, capillary blood gases, pulmonary function testings, and complications. Upright anteroposterior/lateral radiographs were measured for Cobb angle, kyphosis, lordosis, thoracic width, and thoracic/lumbar spinal height. Computed tomography scan lung volumes were obtained in 12 patients.
Mean age at initial implant was 23 months (7 to 62 mo) with an average 8.4 years (2.3 to 15.6 y) of follow-up. Average chest width increased from 121 to 168 mm at follow-up (P<0.001). Preoperatively, 7/17 (41%) patients had scoliosis. The remainder developed scoliosis during treatment, 8 requiring additional implants. Thoracic and lumbar spinal height was normal preoperatively and stayed normal during treatment. Thoracic kyphosis/lumbar lordosis was stable. Average computed tomography scan total lung volumes increased 484 to 740 mm3 (P<0.001), and Assisted Ventilation Rate status tended to improve (P=0.07). Average forced vital capacity was 34% predicted at first test and 27% predicted at last follow-up. Early demise after surgery was common with multisystem disease. Mean respiratory rate decreased from 35 to 24 bpm at last follow-up (P<0.05). Survival rate of the 22 patients was 68%. Migration of the rib cradles/titanium slings occurred in 12 patients, superficial infections in 5 patients, deep infections in 4 patients, and wound dehiscence in 5 patients. Infection rate was 4.6% per procedure.
The survival rate in JS with surgery was nearly 70% (compared with 70% to 80% mortality without treatment) with less ventilator dependence. Both C1 stenosis and scoliosis are common in JS. Spinal height in JS is normal. Complications are frequent, but tolerable in view of the clinical gains and increase in survival.
约内综合征（JS）常导致致命性胸廓发育不全综合征。自1991年以来，我院采用垂直可扩张人工钛肋动态后外侧扩张胸廓成形术治疗JS。本研究评估该手术的安全性和有效性。
24例JS患者接受治疗，2例失访，对17例至少随访2年的患者进行回顾性临床病程分析：辅助通气率、呼吸频率、毛细血管血气、肺功能测试及并发症。测量站立位前后位/侧位X线片的Cobb角、后凸、前凸、胸廓宽度及胸/腰椎高度。12例患者行胸部CT扫描测量肺容积。
初次植入时的平均年龄为23个月（7至62个月），平均随访8.4年（2.3至15.6年）。随访时平均胸廓宽度从121mm增加至168mm（P<0.001）。术前，17例中有7例（41%）患者有脊柱侧弯。其余患者在治疗过程中出现脊柱侧弯，8例需要额外植入。术前胸腰椎高度正常，治疗期间保持正常。胸段后凸/腰段前凸稳定。胸部CT扫描平均总肺容积从484mm³增加至740mm³（P<0.001），辅助通气率状况有改善趋势（P=0.07）。首次测试时平均用力肺活量为预测值的34%，末次随访时为预测值的27%。术后早期死亡在多系统疾病患者中常见。末次随访时平均呼吸频率从35次/分钟降至24次/分钟（P<0.05）。22例患者的生存率为68%。12例患者出现肋骨支架/钛吊带移位，5例患者出现浅表感染，4例患者出现深部感染，5例患者出现伤口裂开。每次手术的感染率为4.6%。
JS患者手术治疗后的生存率近70%（相比未治疗时70%至80%的死亡率），对呼吸机的依赖减少。C1狭窄和脊柱侧弯在JS患者中均常见。JS患者的脊柱高度正常。并发症常见，但鉴于临床获益和生存率提高，尚在可接受范围内。
