Secondary Logo

Institutional members access full text with Ovid®

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

Williams, Nicole, BMed, FRACS; Narducci, Alessandro, MD; Eastwood, Deborah M, MB, ChB, FRCS; Cleary, Maureen, MD§; Thompson, Dominic, FRCS(SN)

doi: 10.1097/BRS.0000000000002743

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: 4

Department of Orthopaedic Surgery, Women's and Children's Hospital, Adelaide, Australia and Centre for Orthopaedic and Trauma Research, University of Adelaide, Adelaide, Australia

Department of Neurosurgery, University of Rome “Tor Vergata”, Rome, Italy

Department of Orthopaedic Surgery, Great Ormond Street Hospital

§Department of Metabolic Medicine, Great Ormond Street Hospital

Department of Neurosurgery, Great Ormond Street Hospital, London, United Kingdom.

Address correspondence and reprint requests to Dominic Thompson, FRCS (SN), Great Ormond St Hospital for Children, Great Ormond St, London WC1N 3JL, UK; E-mail:

Received 15 January, 2018

Revised 18 April, 2018

Accepted 16 May, 2018

The manuscript submitted does not contain information about medical device(s)/drug(s).

No funds were received in support of this work.

Relevant financial activities outside the submitted work: payment for lecture, travel/accommodations/meeting expenses.

Copyright © 2018 Wolters Kluwer Health, Inc. All rights reserved.