SCREENING FOR SYMPTOMATIC SPINAL STENOSIS IN ACHONDROPLASIA

Abstract

Aim: Spinal stenosis is a known entity in achondroplasia and a need for screening for the symptomatic children was identified in a tertiary limb reconstruction service. The aim of this study was to evaluate whether clinical and radiological imaging would identify the at risk group.

Materials and methods: 205 achondroplastic children were treated at our service in the last 20 years. A prospective clinical screening programme for spinal stenosis which also included the MRI imaging of entire spine was however introduced only in 1996. 26 patients were available for this study. Case notes were reviewed for clinical symptoms and neurological signs. MR images were assessed for stenosis especially at Cervico medullary junction and lumbar level. Canal diameters were measured at all spinal levels from CMJ to lumbo-sacral junction. Neurosurgical interventions were recorded. An attempt was made to identify high risk factors that required surgical intervention.

Results: Delayed milestones were observed in 7 patients. Positive history of back pain or radicular pain was obtained in 10 whereas 10 patients had symptoms of neurogenic claudication. Brisk reflexes and clonus were consistent findings. Severe foramen magnum narrowing was observed in 23 patients and 13 showed ‘kinking’ or ‘pinching’, suggesting severe compression. Of the 17 patients seen by neurosurgeons 6 required single or multiple surgical decompressions. Ventriculo-peritoneal shunt was inserted in 4. 5 children required CMJ decompression and one required lumbar canal decompression. There was a 7 mm difference in AP diameter measured on MRI at CMJ between the two non operated and operated groups. Female patients with delayed milestones and CMJ narrowing to less than 25 mm were identified as high risk.

Conclusion: The cause of increased morbidity and mortality in young achondroplasts is attributable to severe CM compression. Sudden death can occur by acute or gradual progressive encroachment of respiratory centre at medulla oblongata. We were able to identify symptomatic patients early before developing myelomalacia and cord changes by screening all symptomatic children with achondroplasia. We propose that female gender, especially with delayed milestones as another high risk factor. We stress upon the importance of developing a nationalised selective screening programme with guidelines in specialist orthopaedic and joint multi-disciplinary Skeletal Dysplasia clinics.