Open Access Highly Accessed Open Badges Case Report

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

Konstantinos C Soultanis1*, Alexandros H Payatakes23, Vasilios T Chouliaras2, Georgios C Mandellos2, Nikolaos E Pyrovolou1, Fani M Pliarchopoulou4 and Panayotis N Soucacos1

Author Affiliations

1 1st Department of Orthopaedic Surgery, School of Medicine, University of Athens, "Attikon" Hospital, Rimini 1 Haidari 12462, Athens, Greece

2 Department of Orthopaedic Surgery, School of Medicine, University of Ioannina, Panepistemiou Avenue, Ioannina, 45 110, Greece

3 Department of Surgery, Division of Orthopaedic Surgery, Duke University Medical Center, Durham, NC 27710, USA

4 4th Department of Internal Medicine, School of Medicine, University of Athens, "Attikon" Hospital, Rimini 1 Haidari 12462, Athens, Greece

For all author emails, please log on.

Scoliosis 2007, 2:15  doi:10.1186/1748-7161-2-15

Published: 23 October 2007



Spine deformity can be idiopathic (more than 80% of cases), neuromuscular, congenital or neurofibromatosis-related. However, there are many disorders that may also be involved. We present our experience treating patients with scoliosis or other spine deformities related to rare clinical entities.


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.