对患有罕见疾病 "科斯特洛综合征 "的未成年患者的严重脊柱侧凸进行手术治疗--临床实例与文献综述简介

Life Pub Date : 2024-06-10 DOI:10.3390/life14060740
Paweł Grabala, Piotr Kowalski, Marek J. Rudziński, B. Polis, Michał Grabala
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引用次数: 0

摘要

背景:科斯特洛综合征(Costello Syndrome,CS)是一种罕见的遗传综合征,由于 11 号染色体上的 HRAS 基因发生突变,导致表现出一系列特征,如特征性外观、多种先天缺陷、智力障碍和癌症遗传倾向、友好型人格等。CS 非常罕见,发病率约为 1/300,000,但它属于先天性综合征中最大的一组,称为 RAS 病,发病率为 1/1000。脊柱侧弯和脊柱后凸以及其他脊柱缺陷很常见,分别占患者总数的 63% 和 58%,一项针对成年患者的研究显示,75% 的患者存在脊柱侧弯;腰椎部分可能过度前凸,脊柱弯曲倒置(胸椎部分前凸,腰椎部分后凸)。我们的研究旨在介绍一例治疗严重脊柱侧弯(130度)的病例报告,患者年仅14岁,患有科斯特洛综合征,并同时患有Chiari II综合征和鞘膜积液,但骨骼尚未发育成熟。该患者在计划手术矫正严重脊柱侧弯前3个月接受了枕骨大孔减压术。患者符合使用磁控生长棒(MCGR)进行手术治疗的条件。在使用磁控生长棒(MCGR)进行脊柱手术后,我们在接下来的两年中逐渐进行了磁控生长棒牵引手术;最后,我们进行了最后一次手术,即转为后路脊柱融合术(PSF),并同时进行了多层次的 Ponte 截骨术,手术效果非常好,令人满意。围手术期出现了两个严重的并发症:中心导管引起的气胸和之前未确诊的消化道静脉曲张引起的消化道出血。该病例表明,治疗严重的、被忽视的脊柱侧弯是一项复杂的工作,需要与其他专家合作,做好特殊准备并制定手术计划。脊柱侧弯从130度矫正到约48度,矢状面平衡得到明显改善,手术效果非常令人满意,患者的生活质量和功能得到显著改善。
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The Surgical Management of Severe Scoliosis in Immature Patient with a Very Rare Disease Costello Syndrome—Clinical Example and Brief Literature Review
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.
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