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CC BY-NC-ND 4.0 · AJP Rep 2019; 09(01): e10-e14
DOI: 10.1055/s-0039-1677735
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic Telangiectasia

Matthew Merves
1   Department of Pediatrics, Division of Neonatology, Emory University, Atlanta, Georgia
,
Kimberly Parsons
1   Department of Pediatrics, Division of Neonatology, Emory University, Atlanta, Georgia
,
Adina Alazraki
2   Department of Radiology, Emory University, Atlanta, Georgia
,
Jonathan Meisel
3   Department of Surgery, Emory University, Atlanta, Georgia
,
Cary Sauer
4   Gastroenterology Section, Emory University, Atlanta, Georgia
,
Hong Li
5   Department of Human Genetics, Emory University, Atlanta, Georgia
› Author Affiliations Funding Source No funding was secured for this study.
Further Information

Publication History

11 March 2018

21 October 2018

Publication Date:
29 January 2019 (online)

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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.

Keywords

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

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.


 

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