Recurrent Spinal Arteriovenous Malformations in a Patient with Cobb Syndrome

Abstract

Cobb syndrome is a rare neurocutaneous disease characterized by multiple spinal vascular anomalies and vascular skin lesions affecting the corresponding dermatome. We present a case of a 12-year-old boy with history of spinal arteriovenous malformation (AVM) extending from T4-T5 status post partial embolization 3 years ago and hyperpigmented patch overlying his thoracic back region presenting with 2 days of back pain and lower extremity numbness and weakness. He had multiple Type III AVMs within the spinal and paraspinal tissues involving the T4-T7 vertebral elements, most extensively T4 and T5. The largest aneurysm located at the confluence of the main AVM nidus was a 4 mm anterior spinal artery aneurysm, which was embolized with partial embolization of the main AVM nidus, resulting in complete aneurysm occlusion. This report provides valuable insight on the natural history, recurrence risk, and treatment options of Cobb syndrome to aid in early diagnosis and improve outcomes.

Keywords: children; genetics; magnetic resonance imaging; malformation; neurocutaneous; neuroimaging.

Figure 1.

Large patch of port wine stain lesion overlying the thoracic spinal region of a 12-year-old male patient with Cobb syndrome present since birth.

Figure 2.

T2 weighted spinal magnetic resonance imaging (MRI) with and without contrast obtained in a 12-year-old male patient with Cobb syndrome showing an intramedullary T2 hypointense signal at T3-T4 with adjacent central hyperintensity within the cord extending to T6 inferiorly with associated adjacent cord edema/syrinx.

Figure 3.

Pre-operative digital subtraction angiography (DSA) in a 12-year-old male patient with Cobb syndrome showing multiple arteriovenous malformations (AVMs) within the spinal and paraspinal tissues involving T4-T7 vertebral elements, most extensively at T4 and T5.

Figure 4.

Digital subtraction angiography (DSA) in a 12-year-old male patient with Cobb syndrome after embolization of a 4 mm anterior spinal artery aneurysm located at the confluence of the main arteriovenous malformation (AVM) nidus. Partial embolization of the main AVM nidus was also achieved, resulting in complete aneurysm occlusion and no identifiable residual inflow into the main nidus or its 3 mm intranidal aneurysm.