Cervical spinal cord compression in children and adolescents with 22q11.2 deletion syndrome
7 affiliations
- 1Dept. of Plastic Surgery, University Medical Center Utrecht, the Netherlands
- 2Dept. of Genetics, Children's Hospital of Philadelphia, United States of America
- 3Dept of Pediatrics, University Medical Center Utrecht, the Netherlands
- 4Div. of Orthopedic Surgery, Children's Hospital of Philadelphia, United States of America
- 5Div. of Neuroradiology, Children's Hospital of Philadelphia, United States of America
- 6Dept. of Orthopaedic Surgery, University Medical Center Utrecht, the Netherlands
- 7Div. of Neurosurgery, Children's Hospital of Philadelphia, United States of America
Abstract
Introduction: Cervical spine anomalies are common in patients with 22q11.2 deletion syndrome (22q11DS), but the clinical course and risk of spinal cord compression remain poorly defined in this population. Current guidelines recommend radiographic cervical spine screening for cervical instability around 4 years of age, yet cases of compression are often detected later. This study aims to characterize the clinical and radiological presentation of patients with 22q11DS who develop cord compression to aid early recognition and to improve awareness.
Research question: What are the clinical trajectories and radiological features of 22q11DS patients who develop cervical spinal cord compression?
Methods: This is a retrospective multicenter case-series of patients with 22q11DS and cervical spinal cord compression requiring surgery. Clinical and radiological findings were reviewed of routine screening and pre-operative assessment. All 22q11 patients older than four years underwent routine cervical spine screening, in accordance with current clinical guidelines for 22q11DS.
Results: 5 patients were identified with cervical spinal cord compression. Three presented with neurological symptoms, two of which could be attributed to cord compression, while two patients were asymptomatic. Four of five patients demonstrated no evidence of cervical instability on cervical lateral radiographs at their initial evaluation (age ranged 2-13 years).
Discussion and conclusion: Most patients with 22q11DS and cervical myelopathy presented in adolescence and did not show signs of instability during initial evaluation for cervical instability. These findings suggest that continued vigilance beyond childhood is warranted, with particular attention to signs of cervical myelopathy during adolescence to facilitate timely diagnosis and intervention.
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BibTeX
@article{boxem2026cervical,
title = {{Cervical spinal cord compression in children and adolescents with 22q11.2 deletion syndrome}},
author = {Jette A. Boxem and Michiel L. Houben and Malcolm L. Ecker and Erin S. Schwartz and Tom P. Schlösser and E. Zackai and T. Blaine Crowley and Aebele B. Mink van der Molen and Donna M. McDonald-McGinn and Alexander M. Tucker},
journal = {Brain \& Spine},
year = {2026},
month = oct,
doi = {10.1016/j.bas.2026.107480},
url = {https://doi.org/10.1016/j.bas.2026.107480},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Cervical spinal cord compression in children and adolescents with 22q11.2 deletion syndrome
AU - Jette A. Boxem
AU - Michiel L. Houben
AU - Malcolm L. Ecker
AU - Erin S. Schwartz
AU - Tom P. Schlösser
AU - E. Zackai
AU - T. Blaine Crowley
AU - Aebele B. Mink van der Molen
AU - Donna M. McDonald-McGinn
AU - Alexander M. Tucker
PY - 2026
DA - 2026/10/14
JO - Brain & Spine
DO - 10.1016/j.bas.2026.107480
UR - https://doi.org/10.1016/j.bas.2026.107480
AB - Introduction: Cervical spine anomalies are common in patients with 22q11.2 deletion syndrome (22q11DS), but the clinical course and risk of spinal cord compression remain poorly defined in this population. Current guidelines recommend radiographic cervical spine screening for cervical instability around 4 years of age, yet cases of compression are often detected later. This study aims to characterize the clinical and radiological presentation of patients with 22q11DS who develop cord compression to aid early recognition and to improve awareness. Research question: What are the clinical trajectories and radiological features of 22q11DS patients who develop cervical spinal cord compression? Methods: This is a retrospective multicenter case-series of patients with 22q11DS and cervical spinal cord compression requiring surgery. Clinical and radiological findings were reviewed of routine screening and pre-operative assessment. All 22q11 patients older than four years underwent routine cervical spine screening, in accordance with current clinical guidelines for 22q11DS. Results: 5 patients were identified with cervical spinal cord compression. Three presented with neurological symptoms, two of which could be attributed to cord compression, while two patients were asymptomatic. Four of five patients demonstrated no evidence of cervical instability on cervical lateral radiographs at their initial evaluation (age ranged 2-13 years). Discussion and conclusion: Most patients with 22q11DS and cervical myelopathy presented in adolescence and did not show signs of instability during initial evaluation for cervical instability. These findings suggest that continued vigilance beyond childhood is warranted, with particular attention to signs of cervical myelopathy during adolescence to facilitate timely diagnosis and intervention.
SN - 2772-5294
ER -