The Surgical Management of Severe Scoliosis in Immature Patient with a Very Rare Disease Costello Syndrome-Clinical Example and Brief Literature Review.

Abstract

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.