Treatment of Down syndrome-associated craniovertebral junction abnormalities

Object. Operative intervention for craniovertebral junction (CVJ) instabili ty in patients with Down syndrome has become controversial, with reports of a low incidence of associated neurological dysfunction and high surgical m orbidity rates. The authors analyzed their experience in light of these poo r results and attempted to evaluate differences in management. Methods. Medical and radiographic records of 36 consecutive patients with D own 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 wea kness. Hyperreflexia was documented in a majority of patients (24 cases), a nd 13 patients suffered from varying degrees of quadriparesis. Upper respir atory tract infection precipitated the presentation in five patients. Four patients suffered acute neurological insults after a minor fall and two aft er receiving a general anesthetic agent. Atlantoaxial instability was the most common radiographically observed abno rmality (23 patients), with a rotary component present in 14 patients. Occi pitoatlantal instability was also frequently observed (16 patients) and was coexistent with atlantoaxial dislocation in 15 patients. Twenty individual s had bone anomalies, the most frequent of which was os odontoideum (12 pat ients) followed by atlantal arch hypoplasia and bifid anterior or posterior arches (eight patients). Twenty-seven patients underwent surgical procedures without. subsequent neu rological deterioration, and a 96% fusion rate was observed. In five of 11 patients basilar invagination was irreducible and required transoral decomp ression. Overall, 24 patients enjoyed good or excellent outcomes. Conclusions. The results of this series highlight the clinicopathological c haracteristics of CVJ instability inpatients with Down syndrome and suggest that satisfactory outcomes can be achieved with low surgical morbidity rat es.