A 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.
Eleven 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.
This 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.