Spinal Neurovascular Malformations in Klippel-Trenaunay Syndrome: A Single Center Study.

BACKGROUND A number of studies have demonstrated spinal anomalies associated with Klippel-Trenaunay syndrome (KTS). To date, there are no large consecutive series examining the prevalence and subtype distribution of spinal neurovascular malformations in patients with KTS. OBJECTIVE To report the spectrum and incidence of spinal neurovascular manifestations in the KTS population. METHODS This was a cross-sectional study. Consecutive patients with definite KTS as defined by International Society for the Study of Vascular Anomalies criteria who underwent spinal neuroimaging at our institution were included. All studies were evaluated by a staff neuroradiologist and a senior radiology resident for the presence of developmental venous anomalies, cavernous malformations (CMs), and arteriovenous shunts (AVS). RESULTS A total of 116 patients with definite KTS who underwent spinal neuroimaging were included. A total of 23 neurovascular anomalies were found in 19 patients (16.4%), including 4 patients with multiple anomalies. These included 5 patients with spinal cord CMs (4.3%), 14 patients with a paraspinal or epidural venous malformation (12.1%), and 4 patients with an AVS (3.4%). Of the AVS, 3 were epidural arteriovenous fistulas, 1 of which likely formed de novo in an epidural venous malformation. One was a conus medullaris arteriovenous malformation. CONCLUSION Our study cohort of 116 KTS patients demonstrated a wide spectrum of spinal neurovascular anomalies with a relatively high prevalence. Potential phenotypic descriptions of KTS should include the possibility for spinal neurovascular anomalies.