Editor in Chief
A wide spectrum exists of genetic mutations and inborn errors of metabolism that affect the axial skeleton in children. These disorders, termed bone dysplasias, may result in deformity, instability, and compression of the neuraxis. Most of these conditions are extremely rare, and detailed knowledge of the individual disorders is not essential and is beyond the scope of this text. It is important, however, that the pediatric neurosurgeon be familiar with the more common metabolic bone disorders and their neurosurgical implications. Pediatric neurosurgeons should also be aware of the principles underlying the evaluation, treatment, and surveillance of these conditions to ensure timely referral and intervention.
OMIM (Online Mendelian Inheritance in Man) is an invaluable source of information about the clinical and genetic features of virtually all the metabolic bone disorders.
- Timing: For infants and young children whose clinical and radiological findings are stable, surgery is best deferred to allow maturation of the skeleton.
- Symptoms and signs: Clinical findings may be mild or minimal even where radiological changes are severe.
- Surgical fixation: Optimal reduction of spinal deformity and improvement in alignment are essential before proceeding to surgical fixation. Rigid internal fixation constructs are increasingly applicable to this group of patients.
- Growth: The natural history of the disease and the potential for continued growth need to be considered in the planning of surgical interventions.