Publication Date
1-1-2022
Journal
Surgical Neurology International
DOI
10.25259/SNI_48_2022
PMID
35399906
PMCID
PMC8986760
PubMedCentral® Posted Date
3-18-2022
PubMedCentral® Full Text Version
Post-print
Published Open-Access
yes
Keywords
Basilar impression, Cervical spine instability, Connective tissue disorder, Loeys-Dietz syndrome
Abstract
BACKGROUND: Loeys-Dietz syndrome (LDS) is a genetic connective tissue disorder associated with multiple musculoskeletal anomalies, including cervical spine instability. We sought to examine the nature of imaging for cervical spine instability in children with LDS due to likely pathogenic or pathogenic variants in
METHODS: A retrospective chart review was conducted, examining relevant data for all children with LDS screened at our institution from 2004 through 2021. Cervical spine X-rays were used to assess cervical instability, cervical lordosis, and basilar impression.
RESULTS: A total of 39 patients were identified; 16 underwent cervical spine screening (56.25% male). Median age at initial screening was 7 years (Q1-Q3: 3.75-14, range: 0.1-19). Six of 16 patients evaluated (37.5%) had radiographical evidence of cervical instability. Mean angles of cervical lordosis were 20° (SD = 14.1°, range = 4°-33°) and 17.3° (SD = 16.4°, range = 2°-41°), respectively. Three patients demonstrated radiographical basilar impression. Radiographic progression of cervical instability was seen in one case. All but two were managed conservatively with observation, one patient underwent surgical fixation and fusion of C1-2, the other underwent complex cervical reconstruction anterior and posterior instrumentation.
CONCLUSION: Cervical spine evaluation is important in this cohort; we identified 37.5% had evidence of cervical spine instability, and many had concurrent spinal pathology. From our experience, we agree with the recent advisement for screening at diagnosis and for those previously diagnosed that have not undergone screening. Future study may outline more specific screening practices.