Rare causes of scoliosis and spine deformity: experience and particular features

A retrospective study of the records of a school-screening study in North-West Greece was performed, covering a 10-year period (1992–2002). The records were searched for patients with deformities related to rare disorders. These patients were reviewed as regards to characteristics of underlying disorder and spine deformity, treatment and results, complications, intraoperative and anaesthesiologic difficulties particular to each case.In 13 cases, the spine deformity presented in relation to rare disorders. The underlying disorder was rare neurological disease in 2 cases (Rett syndrome, progressive hemidystonia), muscular disorders (facioscapulohumeral muscular dystrophy, arthrogryposis) in 2 patients, osteogenesis imperfecta in 2 cases, Marfan syndrome, osteopetrosis tarda, spondyloepiphyseal dysplasia congenita, cleidocranial dysplasia and Noonan syndrome in 1 case each. In 2 cases scoliosis was related to other congenital anomalies (phocomelia, blindness). Nine of these patients were surgically treated. Surgery was avoided in 3 patients.This study illustrates the fact that different disorders are related with curves with different characteristics, different accompanying problems and possible complications. Investigation and understanding of the underlying pathology is an essential part of the clinical evaluation and preoperative work-up, as clinical experience at any specific center is limited.Spine deformity is idiopathic in more than 80% of cases. The most frequent clinical entities correlated to the development of non-idiopathic spine deformities are neuromuscular disorders, congenital anomalies of the vertebrae, and neurofibromatosis. However, there are many disorders that may lead to the development of spine deformity (Table 1).Treatment of a spine deformity requires an in-depth knowledge of the underlying pathology. The particular features of each case are taken into consideration to select the method of treatment, to determine surgical technique and problems