Cervical spine arteriovenous fistula associated with hereditary haemorrhagic telangiectasia

Reported is a case of a man aged 55 years who presented with progressive spastic paraparesis. Examination demonstrated multiple cutaneous telangiectases. Subsequent development of upper limb weakness, acute urinary retention and eventual respiratory compromise resulted in the requirement for intensive care unit admission and mechanical ventilation. MRI spine revealed diffuse T2 hyperintensity in the cervical cord with enhancement and cord expansion. Immunomodulatory therapy for a presumed diagnosis of transverse myelitis yielded no response, so a vascular aetiology was suspected. Spinal angiography demonstrated an arteriovenous fistula involving the upper cervical cord. Endovascular embolisation was successfully performed and a marked clinical improvement was achieved. Cervical arteriovenous fistulas can cause progressive myelopathy, subarachnoid haemorrhage and brainstem dysfunction. Management typically comprises endovascular embolisation or surgical interruption. A clinical diagnosis of hereditary haemorrhagic telangiectasia was also made in this case, and spinal arteriovenous fistula formation has been associated with this condition.