Rotz Seth J, Palumbo Joseph S, Ware Russell E
Cancer and Blood Diseases Institute, Division of Hematology Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
J Pediatr Hematol Oncol. 2017 Aug;39(6):473-475. doi: 10.1097/MPH.0000000000000741.
An infant with presumed maternal immune thrombocytopenic purpura had persistent thrombocytopenia with platelet clumping. The patient had no significant bleeding symptoms in the first year of life and von Willebrand antigen and ristocetin cofactor activity were normal. Absent high molecular weight multimers ultimately led to a genetically proven diagnosis of type 2B von Willebrand disease (3964G>A VWF exon 28), highlighting the challenges of establishing this diagnosis in infants.
一名疑似患有母体免疫性血小板减少性紫癜的婴儿出现持续性血小板减少并伴有血小板聚集。该患者在出生后的第一年没有明显的出血症状，血管性血友病因子抗原和瑞斯托霉素辅因子活性均正常。缺乏高分子量多聚体最终导致经基因证实诊断为2B型血管性血友病（VWF外显子28的3964G>A），这凸显了在婴儿中确立该诊断的挑战。
