Relationship between phenotypic features in Loeys-Dietz syndrome and the presence of intracranial aneurysms.

OBJECTIVE: Loeys-Dietz syndrome (LDS) is a rare autosomal dominant condition characterized by aneurysms of the aorta, aortic branches, and intracranial arteries; skeletal and cutaneous abnormalities; and craniofacial malformations. Previous authors have reported that higher craniofacial severity index (CFI) scores, which indicate more severe craniofacial abnormalities, correlate with the severity of aortic aneurysm pathology. However, the association between syndromic features and the formation of intracranial aneurysms in LDS patients has yet to be determined. In this study, the authors evaluate the incidence of phenotypic abnormalities, craniofacial features, and Chiari malformation type I (CM-I) in a large LDS cohort and explore possible risk factors for the development of intracranial aneurysms. METHODS: This was a retrospective cohort study of all patients with LDS who had been seen at the Marfan Syndrome and Aortopathy Center at Washington University School of Medicine in St. Louis in 2010-2022. Medical records were reviewed to obtain demographic, clinical, and radiographic data. The prevalence of craniofacial, skeletal, and cutaneous pathologies was determined. Bivariate logistic regression was performed to identify possible risk factors for the formation of an intracranial aneurysm. RESULTS: Eighty-one patients with complete medical records and intracranial vascular imaging were included in the analysis, and 18 patients (22.2%) had at least 1 intracranial aneurysm. Patients frequently demonstrated the thin or translucent skin, doughy skin texture, hypertelorism, uvular abnormalities, and joint hypermobility typical of LDS. CM-I was common, occurring in 7.4% of the patients. Importantly, the patients with intracranial aneurysms were more likely to have CM-I (22.2%) than those without intracranial aneurysms (3.2%). The mean CFI score in the cohort with available data was 1.81, with higher means in the patients with the TGFBR1 or TGFBR2 disease-causing variants (2.05 and 3.30, respectively) and lower in the patients with the SMAD3, TGFB2, or TGFB3 pathogenic variants (CFI < 1). No significant CFI difference was observed in patients with or without intracranial aneurysms (2.06 vs 1.74, p = 0.61). CONCLUSIONS: CM-I, and not the CFI, is significantly associated with the presence of intracranial aneurysms in patients with LDS. Surveillance for intracranial aneurysms is essential in all patients with LDS and should not be limited to those with severe phenotypes. Long-term monitoring studies will be necessary to determine whether a correlation between craniofacial abnormalities and adverse outcomes from intracranial aneurysms (growth, intervention, or rupture) exists.

Removal of a Floating and Migrated Plate Screw in a Patient with a Failed Anterior Cervical Discectomy and Fusion.

BACKGROUND: Anterior cervical discectomy and fusion (ACDF) is a commonly performed procedure for degenerative cervical spine disease. Rare complications of ACDF surgery include hardware failure, in the form of screw loosening and migration, or rod breakage. We present a case in which we removed a migrated screw lodged in the esophagus from a patient with a failed anterior cervical fusion. OBJECTIVE: To present a surgical technique and considerations to remove a migrated screw. METHODS: The previous ACDF incision was reopened and exposure was gained under the guidance of a head and neck surgeon. Longus coli were mobilized off the spine bilaterally with electrocautery. After dissection, the screw was found lodged in the longitudinal muscle of the esophageal wall and excised with the use of a 15-blade. The integrity of the esophageal mucosa and submucosa was maintained and subsequently checked with rigid esophagoscopy. Fluoroscopy was used to confirm that all hardware was removed, with the exception of the anterior cages. RESULTS: The dislodged screw, which was embedded in the esophagus, was successfully removed. CONCLUSIONS: Failure of an ACDF carries a risk of screw migration, which may be asymptomatic even if the screw is lodged in the esophagus. Additional considerations are required with potential violations of the adjacent viscera.