An Evidence-based Approach to the Management of Children With Morquio A Syndrome Presenting With Craniocervical Pathology.

STUDY DESIGN

Retrospective case series OBJECTIVE.: The aim of this study was to review clinical and radiological outcomes of craniovertebral surgery in children with Morquio A syndrome (Mucopolysaccharidosis type IVA) and develop an evidence-based management algorithm.

SUMMARY OF BACKGROUND DATA

Myelopathy secondary to craniovertebral pathology is a common cause of neurological disability in Morquio A syndrome. Previously unresolved surgical controversies include the value of surveillance, surgical indications, and operative technique.

METHODS

A retrospective case-based review of children with Morquio A syndrome and craniovertebral pathology seen in a tertiary referral pediatric center from 1992 to 2016 was performed. Patients treated nonoperatively and operatively were included. Medical records and imaging were reviewed to determine clinical and radiological findings at initial assessment, before cervical spine surgery, early postoperative period, and final follow-up. The clinical outcomes of interest were neurological status and mobility at follow-up, complications, and need for further surgery.

RESULTS

Twenty-seven patients were included. Surgical indications were radiological evidence of cervicomedullary compression alone (six cases) or with clinical evidence of myelopathy (12 cases). Eighteen patients (median age 6.2 years, range 3.5-15.9 years) underwent surgery, with median follow-up of 8.5 years. Occiput to upper cervical spine fusion with C1 decompression was performed in all cases with the addition of autologous calvarial graft in young patients (12 cases) and occipital-cervical plate fixation in older children (six cases). Neurological improvement occurred in 38% of cases but by one functional level only. Six of nine conservatively treated patients remained independent walkers.

CONCLUSION

Surgery for craniovertebral pathology is required in the majority of children with Morquio A syndrome. Close clinical and radiological surveillance is essential for timely intervention. Occiput to cervical fusion is safe and feasible even in young patients and improves clinical and radiological parameters.

LEVEL OF EVIDENCE