Treatment of Down syndrome-associated craniovertebral junction abnormalities

Operative intervention for craniovertebral junction (CVJ) instability in patients with Down syndrome has become controversial, with reports of a low incidence of associated neurological dysfunction and high surgical morbidity rates. The authors analyzed their experience in light of these poor results and attempted to evaluate differences in management.

Medical and radiographic records of 36 consecutive patients with Down syndrome and CVJ abnormalities were reviewed. The most common clinical complaints included neck pain (15 patients) and torticollis (12 patients). Cervicomedullary compression was associated with ataxia and progressive weakness. Hyperreflexia was documented in a majority of patients (24 cases), and 13 patients suffered from varying degrees of quadriparesis. Upper respiratory tract infection precipitated the presentation in five patients. Four patients suffered acute neurological insults after a minor fall and two after receiving a general anesthetic agent. Atlantoaxial instability was the most common radiographically observed abnormality (23 patients), with a rotary component present in 14 patients. Occipitoatlantal instability was also frequently observed (16 patients) and was coexistent with atlantoaxial dislocation in 15 patients. Twenty individuals had bone anomalies, the most frequent of which was os odontoideum (12 patients) followed by atlantal arch hypoplasia and bifid anterior or posterior arches (eight patients). Twenty-seven patients underwent surgical procedures without subsequent neurological deterioration, and a 96% fusion rate was observed. In five of 11 patients basilar invagination was irreducible and required transoral decompression. Overall, 24 patients enjoyed good or excellent outcomes.

The results of this series highlight the clinicopathological characteristics of CVJ instability in patients with Down syndrome and suggest that satisfactory outcomes can be achieved with low surgical morbidity rates.