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CC BY-NC-ND 4.0 · AJP Rep 2019; 09(01): e10-e14
DOI: 10.1055/s-0039-1677735
Case Report
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Significant Hematochezia and Intracranial Bleeding in Neonatal Hereditary Hemorrhagic Telangiectasia

Matthew Merves
1   Department of Pediatrics, Division of Neonatology, Emory University, Atlanta, Georgia
,
Kimberly Parsons
1   Department of Pediatrics, Division of Neonatology, Emory University, Atlanta, Georgia
,
Adina Alazraki
2   Department of Radiology, Emory University, Atlanta, Georgia
,
Jonathan Meisel
3   Department of Surgery, Emory University, Atlanta, Georgia
,
Cary Sauer
4   Gastroenterology Section, Emory University, Atlanta, Georgia
,
Hong Li
5   Department of Human Genetics, Emory University, Atlanta, Georgia
› Author Affiliations Funding Source No funding was secured for this study.
Further Information

Publication History

11 March 2018

21 October 2018

Publication Date:
29 January 2019 (online)

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Abstract

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.

Keywords

hereditary 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.


 

  • References

  • 1 Delaney HM, Rooks VJ, Wolfe SQ, Sawyer TL. Term neonate with intracranial hemorrhage and hereditary hemorrhagic telangiectasia: a case report and review of the literature. J Perinatol 2012; 32 (08) 642-644
    CrossrefPubMedGoogle Scholar
  • 2 Argyriou L, Wirbelauer J, Dev A. , et al. A newborn with hereditary haemorrhagic telangiectasia and an unusually severe phenotype. Swiss Med Wkly 2008; 138 (29, 30): 432-436
    PubMedGoogle Scholar
  • 3 Gludovacz K, Vlasselaer J, Mesens T, Van Holsbeke C, Van Robays J, Gyselaers W. Early neonatal complications from pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: case report and review of the literature. J Matern Fetal Neonatal Med 2012; 25 (08) 1494-1498
    CrossrefPubMedGoogle Scholar
  • 4 Al-Saleh S, John PR, Letarte M, Faughnan ME, Belik J, Ratjen F. Symptomatic liver involvement in neonatal hereditary hemorrhagic telangiectasia. Pediatrics 2011; 127 (06) e1615-e1620
    CrossrefPubMedGoogle Scholar
  • 5 Morgan T, McDonald J, Anderson C. , et al. Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome). Pediatrics 2002; 109 (01) E12
    CrossrefPubMedGoogle Scholar
  • 6 Jackson SB, Villano NP, Benhammou JN, Lewis M, Pisegna JR, Padua D. Gastrointestinal manifestations of hereditary hemorrhagic telangiectasia (HHT): a systematic review of the literature. Dig Dis Sci 2017; 62 (10) 2623-2630
    CrossrefPubMedGoogle Scholar
  • 7 Shovlin CL, Guttmacher AE, Buscarini E. , et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu–Osler–Weber syndrome). Am J Med Genet 2000; 91 (01) 66-67
    CrossrefPubMedGoogle Scholar
  • 8 Mei-Zahav M, Letarte M, Faughnan ME, Abdalla SA, Cymerman U, MacLusky IB. Symptomatic children with hereditary hemorrhagic telangiectasia: a pediatric center experience. Arch Pediatr Adolesc Med 2006; 160 (06) 596-601
    CrossrefPubMedGoogle Scholar
  • 9 Calhoun AR, Bollo RJ, Garber ST. , et al. Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia. J Neurosurg Pediatr 2012; 9 (06) 654-659
    CrossrefPubMedGoogle Scholar
  • 10 Shimoda Y, Osanai T, Nakayama N. , et al. De novo arteriovenous malformation in a patient with hereditary hemorrhagic telangiectasia. J Neurosurg Pediatr 2016; 17 (03) 330-335
    CrossrefPubMedGoogle Scholar
  • 11 Bortolotti C, Sturiale C. Erratum: are parenchymal AVMs congenital lesions?. Neurosurg Focus 2015; 39 (01) E14-E16
    CrossrefPubMedGoogle Scholar
  • 12 Butt MU, Yoo E, Khan U. Osler–Weber–Rendu syndrome. QJM 2016; 109 (09) 615-616
    CrossrefPubMedGoogle Scholar
  • 13 McDonald J, Wooderchak-Donahue W, VanSant Webb C, Whitehead K, Stevenson DA, Bayrak-Toydemir P. Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet 2015; 6: 1-8
    Google Scholar
  • 14 Wain K, Swanson K, Watson W, Jeavons E, Weaver A, Lindor N. Hereditary hemorrhagic telangiectasia and risks for adverse pregnancy outcomes. Am J Med Genet A 2012; 158A (08) 2009-2014
    CrossrefPubMedGoogle Scholar