Ehlers–Danlos syndrome-associated craniocervical instability with cervicomedullary syndrome: Comparing outcome of craniocervical fusion with occipital bone versus occipital condyle fixation

Abstract

Introduction: Ehlers–Danlos syndrome (EDS) predisposes to craniocervical instability (CCI) with resulting cranial settling and cervicomedullary syndrome due to ligamentous laxity. This study investigates possible differences in radiographic outcomes and operative complication rate between two surgical techniques in patients with EDS and CCI undergoing craniocervical fusion (CCF): occipital bone (OB) versus occipital condyle (OC) fixation. Methods: A retrospective search of the institutional operative database between January 07, 2017, and December 31, 2019, was conducted to identify EDS patients who underwent CCF with either OB (Group OB) or OC (Group OC) fixation. For each patient, pre- and post-operative radiographic measurements and operative complications were extracted and compared between groups (OB vs. OC): pB-C2, clivoaxial angle (CXA), tonsillar descent, C2C7 sagittal Cobb angle, C2 long axis, and operative complications. Results: Of a total of 26 patients, 13 underwent OV and 13 underwent OC fixation. Eighty-five percent of the patients underwent OC underwent fusion from occiput to C2, while the remaining 15% fusion from occiput to C3. Radiographic outcome in the OC versus OB group was preoperative measurements were similar between OC and OB group: pB-C2 8.8 mm (1.5, 6–11) versus 8.3 mm (1.7, 4–9.6), P = 0.43; CXA 128.2° (5.4, 122–136) versus 131.9° (6.8,122–141), P = 0.41; tonsillar descent 6.2 mm (4.8, 0–15) versus 2.9 mm (3.4, 0–8), P = 0.05; C2 long axis 75.2° (6.7, 58–85) versus 67.2° (21.4, 1–80), P = 0.21; postoperative change of CXA + 14.4° (8.8, 0–30) versus 16.2° (12.4, −4–38), P = 0.43; change of pB-C2 − 2.6 mm (1.8, −-5.3 to 0) versus − 1.2 mm (4, −4.6–8), P = 0.26; and postoperative C2C7 sagittal Cobb angle − 2.6° (19.5, −43–39) versus − 2.6° (11.4, −21–12). Operative complications were seen in 1 out of 13 patients (8%) versus 2 out of 13 patients (16%), P = 1. Conclusions: In EDS, patients with CCI undergoing CCF radiographic and clinical outcome were similar between those with OC versus OB fixation. Both techniques resulted in sufficient correction of pB-C2 and CXA measurements with a low complication rate.

Craniocervical Instability in Ehlers-Danlos Syndrome—A Systematic Review of Diagnostic and Surgical Treatment Criteria

“…They also used the Grabb–Mapstone–Oakes measurement (pB-C2 line) and confirmed improvement of both parameters regardless of the type of fusion technique, advocating for their value as surgical outcome parameters. 12 …”

“…Surgical treatment criteria were reported in 4 of the studies, including a total of 78 EDS patients who underwent cranio-cervical or cervical instrumentation for CCI or atlanto-axial instability, respectively. 11 , 12 , 16 , 25 Henderson et al treated 20 patients with cranio-vertebral instability and flexion deformity, showing a kyphotic CXA, cerebellar ectopia (18/20), or ventral brainstem compression in the context of cervico-medullary syndrome. The patients underwent reduction and stabilization via occipital to C1/C2 fusion.…”

“…Patients were offered surgical intervention if their symptoms were perceived as unbearable, imaging characteristics confirmed CCI, and the trial of immobilization lead to symptom relief. 12 A summary of all applied surgical treatment criteria is given in Table 4 .…”

“…10 Morphologically, it results in cranial settling with clivo-axial kyphosis and ventral brainstem compression. 11,12 Clinically, the patients might present with a cervico-medullary syndrome, which is characterized by a variety of disabling symptoms, including autonomous dysregulation, dizziness, sleep apnea, motor weakness and sensory deficits, balance disturbance and vertigo, as well as swallowing difficulties seeking medical attention. 13 Radiological assessment of CCI is conducted to a variable extent in different settings, but often includes dynamic imaging (flexion/extension views), 2D CT imaging and/or upright MRI of the cranio-vertebral junction.…”

“… 10 Morphologically, it results in cranial settling with clivo-axial kyphosis and ventral brainstem compression. 11 , 12 Clinically, the patients might present with a cervico-medullary syndrome, which is characterized by a variety of disabling symptoms, including autonomous dysregulation, dizziness, sleep apnea, motor weakness and sensory deficits, balance disturbance and vertigo, as well as swallowing difficulties seeking medical attention. 13 …”