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  • Title: Term neonate with intracranial hemorrhage and hereditary hemorrhagic telangiectasia: a case report and review of the literature.
    Author: Delaney HM, Rooks VJ, Wolfe SQ, Sawyer TL.
    Journal: J Perinatol; 2012 Aug; 32(8):642-4. PubMed ID: 22842803.
    Abstract:
    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.
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