Merves Matthew, Parsons Kimberly, Alazraki Adina, Meisel Jonathan, Sauer Cary, Li Hong
Department of Pediatrics, Division of Neonatology, Emory University, Atlanta, Georgia.
Department of Radiology, Emory University, Atlanta, Georgia.
AJP Rep. 2019 Jan;9(1):e10-e14. doi: 10.1055/s-0039-1677735. Epub 2019 Jan 29.
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 . 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.
遗传性出血性毛细血管扩张症（HHT）是一种报道不足的常染色体显性血管发育异常疾病。HHT的新生儿表现较为罕见，因为这种疾病通常在青春期或更晚出现鼻出血症状。我们报告了一名女性新生儿，出生第一天出现便血，继发于多处胃肠道动静脉畸形（AVM）以及颅内出血。我们描述了她的临床病程和治疗情况，以及她在 中的新型家族突变。这是首例报道的新生儿期出现严重胃肠道出血的HHT病例。我们回顾了新生儿HHT，并提出对于HHT高危胎儿应考虑更有针对性的产前影像学检查和分娩方式。
