Surgical management strategies for atlantoaxial instability/dislocation in down syndrome

Abstract Objective To evaluate surgical strategies and clinical outcomes for atlantoaxial instability/dislocation (AAI/AAD) in Down syndrome (DS) patients. Methods A retrospective review was conducted on 12 DS patients with AAI/AAD treated between March 2018 and June 2024. Surgical plans were tailor...

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Main Authors: Yang Gao, Nanfang Xu, Yinglun Tian, Shenglin Wang
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Journal of Orthopaedic Surgery and Research
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Online Access:https://doi.org/10.1186/s13018-025-06105-3
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author Yang Gao
Nanfang Xu
Yinglun Tian
Shenglin Wang
author_facet Yang Gao
Nanfang Xu
Yinglun Tian
Shenglin Wang
author_sort Yang Gao
collection DOAJ
description Abstract Objective To evaluate surgical strategies and clinical outcomes for atlantoaxial instability/dislocation (AAI/AAD) in Down syndrome (DS) patients. Methods A retrospective review was conducted on 12 DS patients with AAI/AAD treated between March 2018 and June 2024. Surgical plans were tailored based on reducibility: reducible cases underwent posterior atlantoaxial/occipitocervical fusion (n = 8), while irreducible cases received transoral anterior release combined with posterior fixation (n = 4). Outcomes were assessed through complications, radiographic parameters (anterior atlantodental interval, ADI), and neurological status (JOA score). Results The cohort (5 males, 7 females) aged 5–28 years (mean 11.3 ± 6.4) completed 1–6 year follow-up. Clinical presentations included myelopathy (75.0%, 9/12) and neck pain (25.0%, 3/12). Radiographic anomalies included os odontoideum (66.7%, 8/12) and odontoid fracture (8.3%, 1/12). Postoperative ADI significantly decreased from 8.95 ± 3.19 mm to 3.40 ± 0.81 mm (P < 0.05), with JOA scores improving from 10.92 ± 4.40 to 15.50 ± 2.43 (P < 0.05). Complications occurred in 25.0% (3/12): one surgical site infection managed by debridement, one dural tear repaired intraoperatively, and one hardware displacement requiring revision. Median fusion time was 6 months (range 4.5–16). All patients demonstrated neurological improvement except one with residual lower limb weakness. Conclusion DS patients with AAI/AAD frequently present with os odontoideum and spinal cord compromise, necessitating surgical intervention. Reducible dislocations may be effectively managed with posterior fusion alone, whereas irreducible cases require combined anterior–posterior approaches. Early surgical intervention is recommended for DS patients exhibiting os odontoideum with AAI/AAD due to elevated risk of progressive myelopathy.
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spelling doaj-art-81162e1b4cb24b1ca36e2b3f5bfb6e972025-08-20T04:03:01ZengBMCJournal of Orthopaedic Surgery and Research1749-799X2025-07-0120111110.1186/s13018-025-06105-3Surgical management strategies for atlantoaxial instability/dislocation in down syndromeYang Gao0Nanfang Xu1Yinglun Tian2Shenglin Wang3Department of Orthopedics, Peking University Third HospitalDepartment of Orthopedics, Peking University Third HospitalDepartment of Orthopedics, Peking University Third HospitalDepartment of Orthopedics, Peking University Third HospitalAbstract Objective To evaluate surgical strategies and clinical outcomes for atlantoaxial instability/dislocation (AAI/AAD) in Down syndrome (DS) patients. Methods A retrospective review was conducted on 12 DS patients with AAI/AAD treated between March 2018 and June 2024. Surgical plans were tailored based on reducibility: reducible cases underwent posterior atlantoaxial/occipitocervical fusion (n = 8), while irreducible cases received transoral anterior release combined with posterior fixation (n = 4). Outcomes were assessed through complications, radiographic parameters (anterior atlantodental interval, ADI), and neurological status (JOA score). Results The cohort (5 males, 7 females) aged 5–28 years (mean 11.3 ± 6.4) completed 1–6 year follow-up. Clinical presentations included myelopathy (75.0%, 9/12) and neck pain (25.0%, 3/12). Radiographic anomalies included os odontoideum (66.7%, 8/12) and odontoid fracture (8.3%, 1/12). Postoperative ADI significantly decreased from 8.95 ± 3.19 mm to 3.40 ± 0.81 mm (P < 0.05), with JOA scores improving from 10.92 ± 4.40 to 15.50 ± 2.43 (P < 0.05). Complications occurred in 25.0% (3/12): one surgical site infection managed by debridement, one dural tear repaired intraoperatively, and one hardware displacement requiring revision. Median fusion time was 6 months (range 4.5–16). All patients demonstrated neurological improvement except one with residual lower limb weakness. Conclusion DS patients with AAI/AAD frequently present with os odontoideum and spinal cord compromise, necessitating surgical intervention. Reducible dislocations may be effectively managed with posterior fusion alone, whereas irreducible cases require combined anterior–posterior approaches. Early surgical intervention is recommended for DS patients exhibiting os odontoideum with AAI/AAD due to elevated risk of progressive myelopathy.https://doi.org/10.1186/s13018-025-06105-3Atlantoaxial dislocationDown syndromeReducible dislocationIrreducible dislocation
spellingShingle Yang Gao
Nanfang Xu
Yinglun Tian
Shenglin Wang
Surgical management strategies for atlantoaxial instability/dislocation in down syndrome
Journal of Orthopaedic Surgery and Research
Atlantoaxial dislocation
Down syndrome
Reducible dislocation
Irreducible dislocation
title Surgical management strategies for atlantoaxial instability/dislocation in down syndrome
title_full Surgical management strategies for atlantoaxial instability/dislocation in down syndrome
title_fullStr Surgical management strategies for atlantoaxial instability/dislocation in down syndrome
title_full_unstemmed Surgical management strategies for atlantoaxial instability/dislocation in down syndrome
title_short Surgical management strategies for atlantoaxial instability/dislocation in down syndrome
title_sort surgical management strategies for atlantoaxial instability dislocation in down syndrome
topic Atlantoaxial dislocation
Down syndrome
Reducible dislocation
Irreducible dislocation
url https://doi.org/10.1186/s13018-025-06105-3
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AT nanfangxu surgicalmanagementstrategiesforatlantoaxialinstabilitydislocationindownsyndrome
AT yingluntian surgicalmanagementstrategiesforatlantoaxialinstabilitydislocationindownsyndrome
AT shenglinwang surgicalmanagementstrategiesforatlantoaxialinstabilitydislocationindownsyndrome