Journal article
Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia: Report of 2 cases
Journal of neurosurgery. Pediatrics, Vol.9(6), pp.654-659
2012
DOI: 10.3171/2012.2.PEDS11446
Abstract
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.
Details
- Title: Subtitle
- Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia: Report of 2 cases
- Creators
- Amy R. U. L CALHOUN - Department of Pediatrics, Division of Medical Genetics, Primary Children's Medical Center, United StatesRobert J BOLLO - Division of Pediatric Neurosurgery, Department of Neurosurgery, Primary Children's Medical Center, United StatesSarah T GARBER - Division of Pediatric Neurosurgery, Department of Neurosurgery, Primary Children's Medical Center, United StatesJamie MCDONALD - HHT Center of Excellence, Department of Radiology, University of Utah, Salt Lake City, Utah, United StatesDavid A STEVENSON - Department of Pediatrics, Division of Medical Genetics, Primary Children's Medical Center, United StatesIrene H HUNG - Department of Pediatrics, Division of Medical Genetics, Primary Children's Medical Center, United StatesDouglas L BROCKMEYER - Division of Pediatric Neurosurgery, Department of Neurosurgery, Primary Children's Medical Center, United StatesMarion L WALKER - Division of Pediatric Neurosurgery, Department of Neurosurgery, Primary Children's Medical Center, United States
- Resource Type
- Journal article
- Publication Details
- Journal of neurosurgery. Pediatrics, Vol.9(6), pp.654-659
- Publisher
- American Association of Neurological Surgeons
- DOI
- 10.3171/2012.2.PEDS11446
- ISSN
- 1933-0707
- eISSN
- 1933-0715
- Language
- English
- Date published
- 2012
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984093458902771
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