Neurosurgical implications of achondroplasia

A review

James A. J. King M.B.B.S., Ph.D., F.R.A.C.S., Shobhan Vachhrajani M.D., James M. Drake M.B., B.Ch., M.Sc., F.R.C.S.C., and James T. Rutka M.D., Ph.D., F.R.C.S.C.
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  • Division of Neurosurgery, The Hospital for Sick Children, University of Toronto, Ontario, Canada
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Object

Achondroplasia is the most common form of human short-limbed dwarfism. The pediatric neurosurgeon is frequently required to treat children with achondroplasia who have hydrocephalus, cervicomedullary compression (CMD), and spinal canal stenosis. Accordingly, the authors have reviewed the experience of neurosurgery in children with achondroplasia at The Hospital for Sick Children.

Methods

The medical records and neurosurgery database at The Hospital for Sick Children were searched to identify all children with achondroplasia who underwent at least 1 neurosurgical procedure between 1956 and the present.

Results

Twenty-nine children with achondroplasia underwent 85 surgical procedures: 52 for CSF diversion in 12 patients, 20 for CMD in 18 patients, 8 for spinal disorders in 4 patients, and 5 for miscellaneous purposes in 4 patients. The CSF shunts were placed almost exclusively before 1990 and were associated with a significant number of complications. Patients undergoing CMD did very well, with only 1 patient failing to improve clinically.

Conclusions

This review provides a historical perspective on the evolution of treatment of pediatric patients with achondroplasia. The use of CSF diversion procedures, formerly fraught with complications, is now rare following the realization of the natural history of CSF space enlargement in these patients. Cervicomedullary compression is more commonly recognized due to better imaging. Central apnea is now better detected by routine sleep studies. Spine surgery, although rare, requires evaluation of both spinal stenosis and instability. These patients are best evaluated by a multidisciplinary team.

Abbreviations used in this paper:

CCJ = craniocervical juction; CMD = cervicomedullary decompression; ETV = endoscopic third ventriculostomy; EVD = external ventricular drain; HSC = Hospital for Sick Children; ICP = intracranial pressure; JHU = Johns Hopkins University; LP = lumboperitoneal; OSV = Orbis Sigma valve; VA = ventriculoatrial; VP = ventriculoperitoneal.

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Contributor Notes

Address correspondence to: James Rutka, M.D., Ph.D., F.R.C.S.C., The Division of Neurosurgery, Suite 1503, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8. email: james.rutka@sickkids.ca.
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