Case of Cowden Syndrome with 15 Spinal Arteriovenous Fistulas

Spinal vascular malformations are rarely multiple: fewer than 50 observations have been documented so far, with a maximum of 4 coexisting lesions per patient, always restricted to a single vertebral region (e.g., cervical or thoracic).

We describe the case of a 61-year-old woman with Cowden syndrome with 15 spinal arteriovenous fistulas (AVFs) at the cervical, thoracic, and lumbar levels and an adrenal AVF. She was initially referred for reevaluation of an upper cervical spinal epidural spinal arteriovenous fistula diagnosed 6 years earlier. Her history included breast carcinoma, a malignant salivary gland tumor, and removal of multiple ovarian, thyroid, and gastric hamartomas. Computed tomography and magnetic resonance imaging confirmed the presence of a prominent cervical vascular lesion. Spinal digital subtraction angiography revealed the presence of 15 additional vascular anomalies.

This multiplicity of AVFs appears to result from a combination of various factors including local regional hemodynamic changes, growth factor-mediated alterations involving notably vascular endothelial growth factor pathways, and the prothrombotic state associated with abnormalities in blood vessel structure.