Disclosures: Amy L Tenaglia, MD: No disclosure data submitted.

Case Description: Nine-year-old female with Down syndrome presented with progressive functional deficits and was found to have atlantoaxial subluxation with severe cord compression and myelopathy.

Setting: Acute inpatient rehabilitation

Patient: Nine-year-old female with Down syndrome presented with left sided weakness, sensory deficits, and difficulty walking for 3 months.

Assessment/Results: Brain MRI revealed marked atlantoaxial subluxation with compression of the cord at the level of the odontoid process. She underwent bilateral sub-occipital craniectomy, C1 laminectomy and occipital-C4 fusion. She was admitted to acute inpatient rehabilitation to address her continued functional deficits.

Discussion: Atlantoaxial instability (AAI) refers to increased mobility of the axis on the atlas. It is more common in those with Down syndrome, affecting 10-20%. On lateral neck radiographs, a large anterior atlanto-odontoid distance can indicate instability and in 1-2%, the displaced odontoid can compress the cord causing weakness, abnormal gait, or death. Recently updated guidelines from the American Academy of Pediatrics (AAP) no longer recommend screening radiographs for children with Down syndrome. The American Academy of PM&R continues to recommend radiographs for asymptomatic children at age three to five or prior to participation in contact sports. As specialists in musculoskeletal medicine and as advocates for inclusion and an active lifestyle, pediatric physiatrists should be aware of and appropriately screen for this pathology. As per AAP, plain radiographs do not adequately identify at-risk children. Indeed, a study reviewing adults with Down syndrome found a low correlation between radiological findings and symptoms of AAI. Conversely, two studies in children with Down syndrome evaluated enhanced neuroimaging techniques, one being the use of novel radiographical measurements and the second being the use of a dynamic MRI, the latter better distinguishing patients at risk for neurologic injury.

Conclusion: An interdisciplinary, evidence-based consensus regarding screening guidelines for atlantoaxial subluxation is needed to avoid potentially devastating neurological consequences of atlantoaxial subluxation.

Level of Evidence: Level V

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PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/to-screen-or-not-to-screen-a-case-report-of-atlantoaxial-subluxation/