Long-Term Follow-Up for Child with Ataxia Telangiectasia Related Scoliosis Using Surface Topography: A Case Report

<b>Background and Clinical Significance:</b> Scoliosis prevalence in patients with ataxia telangiectasia (AT) is higher than in the general population. Scoliosis monitoring is traditionally performed using X-rays, but radiographic imaging is contraindicated in AT patients due to radiation sensitivity. Current guidelines suggest a diagnostic radiograph with subsequent Magnetic Resonance Imaging (MRI). In this report, we (1) evaluated the feasibility of using surface topography (ST) to observe 3D spine curvature trends in a long-term follow-up of a patient with scoliosis and AT, and (2) developed a novel paradigm for monitoring scoliosis in AT patients. <b>Case presentation:</b> A female patient (11 years old) with AT and scoliosis was monitored using ST in five visits over four years. Between subsequent visits, her ST measurements included average changes in thoracic scoliotic angle of 5.5° ± 4.9°, thoracolumbar scoliotic angle of 7.8° ± 5.5°, thoracic axial surface rotation (ASR) of 8.0° ± 8.5°, thoracolumbar ASR of 7.0° ± 4.5°, thoracic apical deviation of 6 mm (only measured in two visits), thoracolumbar apical deviation of 10 mm ± 2.4 mm, pelvic obliquity of 5.8 mm ± 3.9 mm, shoulder obliquity of 20 mm (only measured in two visits), coronal imbalance of 11.8 mm ± 9.7 mm, and kyphotic angle of 5.5° ± 5.4°. ST effectively monitored curve patterns throughout the 4-year treatment period, enabling informed treatment decisions by the provider, patient, and family. We also developed a novel paradigm combining diagnostic MRI with serial ST imaging every 6-12 months to monitor curve progression with supplemental MRI as needed. <b>Conclusions:</b> Our novel ST paradigm provides a feasible method for monitoring 3D scoliosis progression in AT patients while avoiding unnecessary radiographic imaging.