PDF(Pubmed)
Abstract：
BACKGROUND: Costello syndrome (CS) is a rare genetic syndrome in which, due to the occurrence of a mutation in the HRAS gene on chromosome 11 that causes the manifestation, a set of features such as a characteristic appearance, many congenital defects, intellectual disability and a genetic predisposition to cancer, friendly personality, and others can be identified. CS is very rare, with an incidence of ~1/300,000, but it belongs to one of the largest groups of congenital syndromes, called RASopathies, occurring with an incidence of 1/1000 people. Scoliosis and kyphosis, as well as other spinal defects, are common, in 63% and 58% of patients, respectively, and a study conducted among adult patients showed the presence of scoliosis in 75% of patients; there may be excessive lordosis of the lumbar section and inverted curvatures of the spine (lordosis in the thoracic section and kyphosis in the lumbar section). The aim of our study is to present a case report of treatment of severe scoliosis of 130 degrees in a 14-year-old patient with Costello syndrome, with coexisting Chiari II syndrome and syrinx in the absence of skeletal maturity. This patient underwent foramen magnum decompression 3 months before planned surgical correction for severe scoliosis. The patient was qualified for surgical treatment using magnetically controlled growing rods (MCGR). After spine surgery using MCGR, we gradually performed MCGR distraction over the next 2 years; we performed the final surgery, conversion to posterior spinal fusion (PSF) with simultaneous multi-level Ponte osteotomy, which gave a very good and satisfactory surgical result. In the perioperative period, two serious complications occurred: pneumothorax caused by central catheter and gastrointestinal bleeding due to previously undiagnosed gastrointestinal varices. This case shows that the treatment of severe and neglected scoliosis is complicated and requires special preparation and a surgical plan with other cooperating specialists. The scoliosis was corrected from 130 degrees to approximately 48 degrees, sagittal balance was significantly improved, and the surgical outcome was very pleasing, significantly improving quality of life and function for the patient.
摘要：
背景：Costello综合征（CS）是一种罕见的遗传综合征，由于11号染色体上的HRAS基因突变导致了这种表现，一组特征，如特征性外观，许多先天性缺陷，智力障碍和癌症的遗传易感性，友好的个性,其他人可以识别。CS是非常罕见的，发病率约为1/30万，但属于先天性综合征的最大群体之一，叫做拉丝病，发生在1/1000人的发病率。脊柱侧凸和后凸,以及其他脊柱缺陷，是常见的，在63%和58%的患者中，分别,在成年患者中进行的一项研究表明，75％的患者存在脊柱侧凸；腰椎部分可能存在过度的脊柱前凸和脊柱倒置的弯曲（胸段的前凸和腰椎部分的后凸）。我们研究的目的是提供一例14岁的Costello综合征患者130度严重脊柱侧凸的治疗病例报告，在没有骨骼成熟度的情况下，伴有ChiariII综合征和syrinx。该患者在计划的严重脊柱侧凸手术矫正前3个月接受了大孔减压。患者有资格使用磁控生长棒（MCGR）进行手术治疗。脊柱手术后使用MCGR，在接下来的两年里，我们逐渐进行了MCGR分心；我们进行了最后一次手术，转换为后路脊柱融合术（PSF），同时进行多水平Ponte截骨术，这给了一个很好的和令人满意的手术效果。在围手术期，发生了两种严重的并发症：中央导管引起的气胸和先前未诊断的胃肠道静脉曲张引起的胃肠道出血。这种情况表明，严重和被忽视的脊柱侧弯的治疗是复杂的，需要特殊的准备和与其他合作专家的手术计划。脊柱侧弯从130度矫正到大约48度，矢状平衡明显改善,手术结果非常令人满意，显着改善患者的生活质量和功能。
