Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia.
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.
Department of Pediatrics, Division of Medical Genetics, Primary Children’s Medical Center, Salt Lake City, UT 84113, USA.
Amy R U L
AR
Calhoun
Robert J
RJ
Bollo
Sarah T
ST
Garber
Jamie
J
McDonald
David A
DA
Stevenson
Irene H
IH
Hung
Douglas L
DL
Brockmeyer
Marion L
ML
Walker
D000792:Angiography; D001164:Arteriovenous Fistula / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D013116:Spinal Cord / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery; D013118:Spinal Cord Diseases / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000150:complications* / Q000235:genetics* / Q000601:surgery; D014057:Tomography, X-Ray Computed