Term neonate with intracranial hemorrhage and hereditary hemorrhagic telangiectasia: a case report and review of the literature

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by mucocutaneous telangiectases and arteriovenous malformations (AVMs). The disease rarely presents in the neonatal period, primarily manifesting with epistaxis and gastrointestinal bleeding in adulthood. Occ...

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Bibliographic Details
Published inJournal of perinatology Vol. 32; no. 8; pp. 642 - 644
Main Authors Delaney, H M, Rooks, V J, Wolfe, S Q, Sawyer, T L
Format Journal Article
LanguageEnglish
Published New York Nature Publishing Group US 01.08.2012
Nature Publishing Group
Subjects
692/699/375/1370
692/699/75/593
692/700/139
692/700/1720
Brain
Case reports
Complications and side effects
Demographic aspects
Female
Fistula, Arteriovenous
Hemorrhage
Hereditary diseases
Hereditary hemorrhagic telangiectasia
Humans
Infant, Newborn
Intracranial Arteriovenous Malformations - complications
Intracranial Arteriovenous Malformations - diagnosis
Intracranial Hemorrhages - complications
Literature reviews
Medicine
Medicine & Public Health
Neonates
Newborn babies
Patient outcomes
Pediatric Surgery
Pediatrics
perinatal-neonatal-case-presentation
Signs and symptoms
Telangiectasia, Hereditary Hemorrhagic
Telangiectasia, Hereditary Hemorrhagic - complications
Telangiectasia, Hereditary Hemorrhagic - diagnosis
endoglin gene
hereditary hemorrhagic telangiectasia
arteriovenous malformations
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Summary:Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by mucocutaneous telangiectases and arteriovenous malformations (AVMs). The disease rarely presents in the neonatal period, primarily manifesting with epistaxis and gastrointestinal bleeding in adulthood. Occasionally, HHT can also present with symptoms related to AVMs in the cerebral, pulmonary or gastrointestinal vasculature. In prior reports, intracranial hemorrhage (ICH) secondary to cerebral AVM in neonates with HHT has been catastrophic and uniformly fatal. Here we report a case of a newborn with HHT and ICH from a suspected AVM who survived with aggressive medical management and surgical intervention, and provide a comprehensive review of the literature on ICH in neonates with HHT.
Bibliography:ObjectType-Case Study-3
SourceType-Scholarly Journals-1
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ObjectType-Review-1
ObjectType-Feature-5
ObjectType-Report-2
ObjectType-Article-4
ISSN:0743-8346
1476-5543
DOI:10.1038/jp.2011.146