Jackson Taylor J, Shah Apurva S, Arkader Alexandre
Division of Orthopaedics, The Children's Hospital of Philadelphia.
The Perelman School of Medicine, University of Pennsylvania.
J Pediatr Orthop. 2019 Feb;39(2):e147-e152. doi: 10.1097/BPO.0000000000001084.
Multiple hereditary exostoses (MHE) is an autosomal dominant condition leading to development of osteochondromas throughout the body. Although long bones are most often affected, spine involvement may occur and usually requires advanced imaging for diagnosis. However, the high cost of detection, infrequent occurrence, and very low likelihood of spinal cord compression and neurological injury, create a management conundrum. The purpose of our investigation is to identify patients at greatest risk for spinal lesions and refine indications for advanced imaging.
All MHE patients in a 24-year period were retrospectively reviewed. Skeletally immature patients with advanced imaging of the spine were further evaluated. The demographic characteristics, family history, clinical presentation, past surgical history, tumor burden, and distribution of patients with spinal lesions were compared with those without.
In total, 227 MHE patients were identified and 21 underwent advanced spinal imaging. Spinal lesions were found in 8 of the 21 screened patients (38.1%, 3.5% overall), of which 4 were intracanal and 1 was symptomatic (4.8%, 0.4% overall). Only the symptomatic patient underwent excision of the spinal lesion. Patients with spinal lesions had higher tumor burden than those without (median, 28.5 vs. 19 locations; P=0.010). There was a significant association with rib (P=0.018) and pelvic (P=0.007) lesions, which may serve as "harbinger" lesions. The presence of both a rib and a pelvic lesion used as a screening tool for spinal lesions produces a sensitivity of 100% and specificity of 69%.
Symptomatic spinal involvement in children with MHE is rare and tends to occur in patients with higher tumor burden. We recommend limiting advanced spine imaging to children with neurological symptoms or with rib and pelvic "harbinger" lesions. Patients without these findings are unlikely to have spine involvement needing intervention. This approach offers an opportunity to avoid unnecessary testing and substantially reduce costs of diagnostic imaging.
Level III.
多发性遗传性骨软骨瘤（MHE）是一种常染色体显性遗传病，可导致全身多发骨软骨瘤。虽然长骨最常受累，但脊柱也可能受累，通常需要先进的影像学检查来诊断。然而，检测成本高、发病率低以及脊髓受压和神经损伤的可能性极低，给治疗带来了难题。我们研究的目的是确定脊柱病变风险最高的患者，并完善先进影像学检查的指征。
回顾性分析24年间所有的MHE患者。对骨骼未成熟且接受过脊柱先进影像学检查的患者进行进一步评估。比较有脊柱病变患者和无脊柱病变患者的人口统计学特征、家族史、临床表现、既往手术史、肿瘤负荷及分布情况。
共确定227例MHE患者，其中21例接受了先进的脊柱影像学检查。在21例接受筛查的患者中，8例发现脊柱病变（38.1%，总体为3.5%），其中4例为椎管内病变，1例有症状（4.8%，总体为0.4%）。只有有症状的患者接受了脊柱病变切除术。有脊柱病变的患者比无脊柱病变的患者肿瘤负荷更高（中位数，28.5处对19处；P = 0.010）。与肋骨（P = 0.018）和骨盆（P = 0.007）病变有显著相关性，这些病变可能是“先兆”病变。将肋骨和骨盆病变同时作为脊柱病变的筛查工具，敏感性为100%，特异性为69%。
MHE患儿出现有症状的脊柱受累情况罕见，且往往发生在肿瘤负荷较高的患者中。我们建议将先进的脊柱影像学检查限于有神经症状或有肋骨和骨盆“先兆”病变的儿童。没有这些表现的患者不太可能有需要干预的脊柱受累情况。这种方法提供了一个避免不必要检查并大幅降低诊断性影像学检查成本的机会。
三级
