• Maha Saleh, Melissa T Carter, Giuseppe A Latino, Peter Dirks, and Felix Ratjen.
• Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada; Division of Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
• Pediatr. Neurol. 2013 Dec 1;49(6):445-50.

BackgroundHereditary hemorrhagic telangiectasia is an autosomal dominant genetic disease with a wide array of vascular malformations involving multiple organs. Brain arteriovenous malformations can lead to intracranial hemorrhage and are often diagnosed only after patients become symptomatic. Early diagnosis and interventional treatment may prevent neurologic sequelae or death. Because of the rarity of defined cases, the spectrum of presentations in children with brain arteriovenous malformations and hereditary hemorrhagic telangiectasia has not been explored in detail. Here, we report our experience in children with hereditary hemorrhagic telangiectasia and brain arteriovenous malformations regarding both disease manifestations at presentation and the spectrum of brain arteriovenous malformation manifestations.MethodsA retrospective review of demographics, clinical manifestations, and brain magnetic resonance imaging/computed tomography scan findings in 115 patients with confirmed hereditary hemorrhagic telangiectasia (HHT) was conducted using the Hospital for Sick Children's HHT Clinic database for the years 1997-2012.ResultsEleven patients (four girls and seven boys) were diagnosed with hereditary hemorrhagic telangiectasia and brain arteriovenous malformations during this period. Five patients initially presented with epistaxis, four presented with intracranial hemorrhage, and two were asymptomatic with a positive family history of confirmed hereditary hemorrhagic telangiectasia. Although all children had an index case with hereditary hemorrhagic telangiectasia in the family, in three patients, hereditary hemorrhagic telangiectasia was not diagnosed before the child's presentation with intracranial hemorrhage. Multiple brain arteriovenous malformations were found in five patients, with one patient having bithalamic arteriovenous malformations.ConclusionsThis study highlights the importance of both family history and early clinical signs to prompt further diagnostic testing to avoid intracranial hemorrhage from brain arteriovenous malformations in children with hereditary hemorrhagic telangiectasia.Copyright © 2013 Elsevier Inc. All rights reserved.

25 keywords...

hide…