Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic Telangiectasia.
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ABSTRACT:
SUBMITTER: Merves M
PROVIDER: S-EPMC6351274 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
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Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic Telangiectasia.
Merves Matthew M Parsons Kimberly K Alazraki Adina A Meisel Jonathan J Sauer Cary C Li Hong H
AJP reports 20190129 1
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 <i>ENG</i> . T ...[more]
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