Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic Telangiectasia
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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Thieme Medical Publishers, Inc.
2019-01-01
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| Series: | American Journal of Perinatology Reports |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0039-1677735 |
| _version_ | 1818159373182042112 |
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| author | Matthew Merves Kimberly Parsons Adina Alazraki Jonathan Meisel Cary Sauer Hong Li |
| author_facet | Matthew Merves Kimberly Parsons Adina Alazraki Jonathan Meisel Cary Sauer Hong Li |
| author_sort | Matthew Merves |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-11T15:44:57Z |
| format | Article |
| id | doaj.art-c868754236d9408db7392f773798a228 |
| institution | Directory Open Access Journal |
| issn | 2157-6998 2157-7005 |
| language | English |
| last_indexed | 2024-12-11T15:44:57Z |
| publishDate | 2019-01-01 |
| publisher | Thieme Medical Publishers, Inc. |
| record_format | Article |
| series | American Journal of Perinatology Reports |
| spelling | doaj.art-c868754236d9408db7392f773798a2282022-12-22T00:59:43ZengThieme Medical Publishers, Inc.American Journal of Perinatology Reports2157-69982157-70052019-01-010901e10e1410.1055/s-0039-1677735Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic TelangiectasiaMatthew Merves0Kimberly Parsons1Adina Alazraki2Jonathan Meisel3Cary Sauer4Hong Li5Department of Pediatrics, Division of Neonatology, Emory University, Atlanta, GeorgiaDepartment of Pediatrics, Division of Neonatology, Emory University, Atlanta, GeorgiaDepartment of Radiology, Emory University, Atlanta, GeorgiaDepartment of Surgery, Emory University, Atlanta, GeorgiaGastroenterology Section, Emory University, Atlanta, GeorgiaDepartment of Human Genetics, Emory University, Atlanta, GeorgiaHereditary 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.http://www.thieme-connect.de/DOI/DOI?10.1055/s-0039-1677735hereditary hemorrhagic telangiectasiaosler–weber–rendu syndromehematocheziaintracranial bleedingneonate |
| spellingShingle | Matthew Merves Kimberly Parsons Adina Alazraki Jonathan Meisel Cary Sauer Hong Li Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic Telangiectasia American Journal of Perinatology Reports hereditary hemorrhagic telangiectasia osler–weber–rendu syndrome hematochezia intracranial bleeding neonate |
| title | Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic Telangiectasia |
| title_full | Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic Telangiectasia |
| title_fullStr | Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic Telangiectasia |
| title_full_unstemmed | Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic Telangiectasia |
| title_short | Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic Telangiectasia |
| title_sort | significant hematochezia and intracranial bleeding in neonatal hereditary hemorrhagic telangiectasia |
| topic | hereditary hemorrhagic telangiectasia osler–weber–rendu syndrome hematochezia intracranial bleeding neonate |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/s-0039-1677735 |
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