About this item:

414 Views | 448 Downloads

Author Notes:

Address for correspondence Matthew Merves, MD Department of Pediatrics, Division of Neonatology 3rd Floor, 2015 Uppergate Drive Northeast, Atlanta GA, 30322, matt.merves@emory.edu

Contributors' Statement Page: Drs. M.M. and H.L. initially managed the care of the patient and began a thorough literature review, drafted the initial manuscript, and reviewed and revisited the manuscript.

Drs. K.P. C.S. managed care of the patient for a significant portion of her hospital stay in the NICU and contributed to the clinical course section of the manuscript.

Dr. A.A. reviewed the patient's radiographs and provided key images in addition to review of the manuscript.

Dr. J.M. managed the patient's surgical care and contributed to the clinical course section of the manuscript.

We gratefully acknowledge Dr. Becky Kinkead for her careful reading of the manuscript.

Conflict of Interest: None of the authors have conflicts of interest to disclose.


Research Funding:

Funding Source No funding was secured for this study.


  • Osler–Weber–Rendu syndrome
  • hematochezia
  • hereditary hemorrhagic telangiectasia
  • intracranial bleeding
  • neonate

Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic Telangiectasia


Journal Title:

American Journal of Perinatology Reports


Volume 9, Number 1


, Pages E10-E14

Type of Work:

Article | Final Publisher PDF


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.

Copyright information:

© 2019 Georg Thieme Verlag KG Stuttgart. New York.

This is an Open Access work distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/).
Export to EndNote