Complex spine deformities in young patients with severe osteogenesis imperfecta: Current concepts review

Abstract

The severity of osteogenesis imperfecta (OI), the associated reduced quality and quantity of collagen type I, the degree of bone fragility, ligamentous laxity, vertebral fractures and multilevel vertebral deformities all impair the mechanical integrity of the whole spinal architecture and relate to the high prevalence of progressive kyphoscoliotic deformities during growth. Bisphosphonate therapy may at best slow down curve progression but does not seem to lower the prevalence of deformities or the incidence of surgery. Brace treatment is problematic due to pre-existing chest wall deformities, stiffness of the curve and the brittleness of the ribs which limit transfer of corrective forces from the brace shell to the spine. Progressive curves entail loss of balance, chest deformities, pain and compromise of pulmonary function and eventually require surgical stabilization, usually around puberty. Severe vertebral deformities including deformed, small pedicles, highly brittle bones and chest deformities, short deformed trunks and associated issues like C-spine and cranial base abnormalities (basilar impressions, cervical kyphosis) as well as deformed lower and upper extremities are posing multiple peri- and intraoperative challenges. Hence, an early multidisciplinary approach (anaesthetist, pulmonologist, paediatric orthopaedic spine surgeon) is mandatory. This paper was written under the guidance of the Spine Study Group of the European Paediatric Orthopaedic Society. It highlights the most pertinent information given in the current literature and various practical aspects on surgical care of spine deformities in young OI patients based on the personal experience of the contributing authors.

REMOVED: Osteogenesis imperfecta Type XI: A rare cause of severe infantile cervical kyphosis

“…The effect of underlying osteogenesis imperfecta on the cervical spine includes basilar invagination, atlantoaxial instability, and fractures of the cervical spine [8] . However, cervical spine fractures are rare [8] , and although dens, C2 pars, hangman and subaxial compression fractures have been reported during growth periods [8] , to the authors’ knowledge, there are no cases in the literature of such a severe cervical kyphosis at such a young age. This patient had a fracture through the posterior elements of C2 which was difficult to diagnose definitively on the initial imaging, but was easier to visualise on follow-up radiographs, once there was some evidence of healing.…”

“…The infant continues to be managed in the collar, pending further follow-up. The literature suggests that most cervical spine fractures in children with osteogenesis imperfecta heal well with external support, such as a rigid cervical collar or Halo body jacket [8] .…”

Cervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5

“…Other craniocervical abnormalities, such as basilar invagination (BI), are associated with OI ( Sillence, 1994 ). Sillence (1994) reported BI in 25% of subjects with OI type IV and Castelein et al (2019) reported BI in 13% of OI patients, with OI type III being the most common (39%). In our group of type 5 OI patients, we did not identify any BI.…”

A roadmap to surgery in osteogenesis imperfecta: results of an international collaboration of patient organizations and interdisciplinary care teams

“…The interdisciplinary team approach as described is especially indicated in the management of spinal disorders in OI. Progressive scoliosis, cranio-cervical deformities, and spondylolisthesis are the most common spine deformities in OI for which ample experience and training is needed (Wallace et al 2017, Castelein et al 2019. One of the indications for scoliosis surgery is to prevent deterioration of lung function.…”