Evaluation of cervical spine pathology in children with 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 TGFBR1, TGFBR2, TGFB2, SMAD3, or TGFB3. 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.

Atlantoaxial instability associated with ALDH18A1 mutation

“…Because of the high morbidity associated with spinal injuries, patients with conditions known to have higher rates of cervical spine anomalies may undergo routine screening, including Trisomy 21 (Myśliwiec et al, 2015; Stadler, 2022), mucopolysaccharidosis (Solanki et al, 2012), Loeys–Dietz syndrome (Prablek et al, 2022), and Ehlers–Danlos syndrome (Lohkamp et al, 2022). Due to the rarity of metabolic cutis laxa, there are no evidence‐based treatment or management guidelines, and the prevalence of atlantoaxial instability is unknown.…”