Profiles of Vertebral Artery Dissection with Congenital Craniovertebral Junction Malformation: Four New Cases and a Literature Review

OBJECTIVE: Vertebral artery dissection (VAD) combined with congenital craniovertebral junction malformation (CVJM) is rare. This study aimed to analyze the etiology, clinical and imaging features, treatment, and prognosis of VAD with CVJM. METHODS: Four new cases of VAD with congenital CVJM and 28 similar cases found in the literature were included. Detailed clinical data from all cases were retrospectively analyzed. RESULTS: A total of 32 patients (28 men, four women; mean age 19.01±12.53 years) were included. Seventeen of 32 cases (53.1%) had had multiple ischemic episodes. The most common neurological symptoms were limb numbness/weakness (20/32), ataxia (15/32), and dizziness/vertigo (12/32). In sum, 31 of 32 cases had multiple infarcts scattered throughout the posterior circulation area on cranial computed tomography or resonance imaging. Dissection had occurred in the V3 segment of the VA in 29/31 cases (93.5%). The most common congenital CVJMs were atlantoaxial dislocation and atlantoaxial subluxation (found in 20/32 cases [62.5%]), while 27/32 cases (84.3%) had multiple combined abnormalities. Seven of eleven cases (63.6%) with initial antiplatelet treatment and one of eleven (9.1%) with initial anticoagulation treatment experienced stoke recurrence. Fusion or vertebral fixation was performed in 16 patients and aneurysm resection in one patient. There was no reported recurrence after surgery in 13 patients with follow-up data. CONCLUSION: Underlying CVJM is a rare but overlooked etiology in VAD, and is prone to induce recurrent ischemic stroke. Patients with VAD, especially that localized in the V3 segment, should be examined for CVJM. Timely assessment is critical for determining the specific cause and to provide targeted intervention.