Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic Telangiectasia

• Authors: Matthew Merves, Emory University; Kimberly Parsons, Emory University; Adina Alazraki, Emory University; Jonathan Meisel, Emory University; Cary Sauer, Emory University; Hong Li, Emory University
• Journal Title: American Journal of Perinatology Reports
• Volume: Volume 9, Number 1
• Publisher: Thieme Open | 2019-01-01, Pages E10-E14
• Type of Work: Article | Final Publisher PDF
• Publisher DOI: http://doi.org/10.1055/s-0039-1677735
• Subjects: Health Sciences, Radiology; Health Sciences, Medicine and Surgery
• Keywords: Osler–Weber–Rendu syndrome; hematochezia; hereditary hemorrhagic telangiectasia; intracranial bleeding; neonate

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an underreported autosomal dominant vascular dysplasia. Neonatal presentations of HHT are rare, as this disorder typically presents in adolescence or beyond with epistaxis. We report a female neonate with hematochezia on the 1st day of life secondary to multiple gastrointestinal arteriovenous malformations (AVMs) along with intracranial hemorrhage. We describe her clinical course and management, as well as her novel family mutation in ENG. This is the first reported HHT case with significant gastrointestinal bleeding in the newborn. We review neonatal HHT and raise the consideration for more directed prenatal imaging and delivery options for fetuses at high risk of HHT.