Treatment of Down syndrome—associated craniovertebral junction abnormalities

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Object. 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.

Methods. 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.

Conclusions. 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.

Article Information

Address reprint requests to: Arnold H. Menezes, M.D., Division of Neurosurgery, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, 1841 JPP, Iowa City, Iowa 52242. email: arnoldmenezes@uiowa.edu.

© AANS, except where prohibited by US copyright law.

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Figures

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    Case 1. Radiological images obtained in a 4-year-old girl who suffered acute quadriparesis after a minor fall. Left: Lateral cervical radiographic study showing gross atlantoaxial subluxation. Right: Midsagittal T2-weighted MR image of the CVJ revealing an abnormal (8-mm) atlantoaxial interval and hyperintense signal at the cervicomedullary junction consistent with contusion.

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    Case 2. Radiological images obtained in a 16-year-old boy with upper-extremity clumsiness and hyperreflexia as well as gait ataxia. Left: Sagittal T1-weighted MR image revealing compression of the cervicomedullary junction and an increased atlantoaxial interval. Right: Postoperative lateral cervical radiographic study showing reduction of the atlantoaxial segment after bilateral transarticular screw fixation and placement of an interlaminar rib graft.

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    Case 3. Flexion (left) and extension (right) lateral cervical radiographic studies obtained in an 8-year-old boy with leftward head tilt and mild hyperreflexia, revealing nearly 10 mm of occipitoatlantal instability. A normal atlantoaxial relationship is maintained.

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    Case 4. Radiological studies obtained in a 6-year-old girl with failed atlantoaxial fusion and occipitoatlantoaxial instability. Upper Left: Lateral flexion cervical radiographic study showing fusion failure evidenced by partial resorption of the graft, C1–2 subluxation, and widening of the space between the posterior C-1 arch and C-2 lamina. Upper Right: Three-dimensional CT reconstruction of the occipitocervical region as viewed through the foramen magnum, revealing evidence of bifid anterior and posterior arches at C-1 and atlantoaxial dislocation. Lower Left: Composite 3D CT scan of the CVJ (lateral and midsagittal views). Bifid anterior and posterior atlantal arches are present together with occipitoatlantoaxial instability. Lower Right: Lateral cervical radiographic study obtained 1 year postoperative revealing complete dorsal occipitoatlantoaxial fusion with bone and titanium instrumentation.

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