Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia

Report of 2 cases

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Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant angiodysplasia with high penetrance and variable expression. The manifestations of HHT are often age related, and spinal arteriovenous fistula (AVF) may be the initial presentation of HHT in young children. Because spinal AVFs are rarely reported, however, screening is not incorporated into current clinical recommendations for the treatment of patients with HHT. The authors describe 2 cases of children younger than 2 years of age with acute neurological deterioration in the context of a spinal AVF and in whom HHT was subsequently diagnosed. One patient presented with intraventricular and subarachnoid hemorrhage and the other with acute thrombosis of an intramedullary varix. These cases highlight the potential for significant neurological morbidity from a symptomatic AVF in very young children with HHT. Given the lack of data regarding the true incidence and natural history of these lesions, these cases raise the question of whether spinal cord imaging should be incorporated into screening recommendations for patients with HHT.

Abbreviations used in this paper:AVF = arteriovenous fistula; AVM = arteriovenous malformation; BMP = bone morphogenetic protein; CTA = CT angiography; HHT = hereditary hemorrhagic telangiectasia; MRA = MR angiography; TGFβ = transforming growth factor–β.

Article Information

Address correspondence to: Marion L. Walker, M.D., Division of Pediatric Neurosurgery, Primary Children's Medical Center, 100 North Mario Capecchi Drive, Suite 1475, Salt Lake City, Utah 84113. email: marion.walker@hsc.utah.edu.

Drs. Calhoun and Bollo contributed equally to this work.

Please include this information when citing this paper: DOI: 10.3171/2012.2.PEDS11446.

© AANS, except where prohibited by US copyright law.

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Figures

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    Case 1. Cervical spine images obtained in a 2-year-old boy after transfer to our institution. A: Sagittal T2-weighted MR image demonstrating expansion of an edematous spinal cord in the context of a hypointense intramedullary lesion from C-4 to C-6 with an area of central hemorrhage. B: Sagittal CT angiogram of the cervical spine demonstrating enlarged ventral perimedullary radicular vessels converging on a large intramedullary varix. Arrow denotes anterior spinal artery (ASA). C: Coronal CT angiogram showing the ASA (arrow). D: Axial CT angiogram demonstrating enlarged radicular feeders. E: Axial CT angiogram demonstrating intramedullary varix occupying most of the cervical spinal canal.

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    Case 2. Axial head CT without contrast enhancement obtained at the time of initial presentation, demonstrating acute intraventricular and subarachnoid hemorrhage and acute hydrocephalus.

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    Case 2. Spinal angiograms obtained before (A) and after (B) embolization, showing the large venous varix, which no longer fills with contrast agent after embolization of the fistula.

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