Neuro-Cranio-Vertebral Syndrome Associated with Ehlers–Danlos Syndrome: Diagnosis and Treatment

Abstract

Background: Patients with Ehlers–Danlos Syndrome (EDS) and craniocervical instability are treated with extensive craniocervical fixation. A new argument and treatment are proposed related to filum terminale collagen dysfunction: the Neuro-Cranio-vertebral syndrome theory (NCVS). Objectives: To analyse clinical manifestation and imaging features of NCVS patients associated with EDS compared with 373 NCVS-affected controls, to propose an aetiopathogenic mechanism for NCVS in EDS patients, and to analyse and assess postoperative changes in NCVS patients with EDS after sectioning of the filum terminale. Methods: We conducted a retrospective study and selected ten patients diagnosed with EDS and NCVS. We present the images, signs, and symptoms in these cases, compared to those of 373 patients with NCVS alone. In addition, we report postsurgical findings in four EDS–NCVS patients after sectioning of the filum terminale. Results: Patients with EDS and NCVS had more cranial and vertebral symptoms. There were also significant differences in the neurological signs present in EDS–NCVS compared to those in NCVS alone. Patients who underwent sectioning of the filum terminale showed a significant improvement in signs and symptoms. Conclusions: The concept of craniocervical instability due to EDS does not explain a large number of neurological signs and symptoms, which seem to fit better in our new NCVS theory. Surgical treatment would only involve sectioning the filum terminale, while cervical fusion would never be justified in such patients.

Keywords

• Arnold–Chiari malformation
• type I
• syringomyelia
• scoliosis
• filum terminale
• Ehlers–Danlos syndrome