Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic TelangiectasiaFunding Source No funding was secured for this study.
11 March 2018
21 October 2018
29 January 2019 (online)
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.
Keywordshereditary 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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