Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic Telangiectasia

• DOI: 10.1055/s-0039-1677735
• Publication Date: 2019-01-30T00:44:10Z
• Authors: Matthew Merves; Kimberly Parsons; Adina Alazraki; Jonathan Meisel; Cary Sauer; Hong Li
• Keywords: Hematochezia; Arteriovenous malformation; Gastrointestinal bleeding; Vascular malformation

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 hematochezia on the 1st day life secondary to multiple gastrointestinal arteriovenous malformations (AVMs) along intracranial hemorrhage. describe her clinical course and management, well novel family mutation ENG . This first reported case significant bleeding newborn. review neonatal raise consideration for more directed prenatal imaging delivery options fetuses at high risk HHT.