We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Neonatal Onset Type 2B von Willebrand Disease due to p.Arg1306Trp Variant: a Case Report and a Literature Review.
- Authors
Hee Yoon Choi; Kyung Sun Park; Yong Sung Choi; Hoi Soo Yoon
- Abstract
Background: Type 2B von Willebrand disease (VWD) is a less common subtype and is difficult to diagnose. This case report and literature review highlights a rare neonatal onset of type 2B VWD initially misdiagnosed as neonatal alloimmune thrombocytopenia (NAIT). Methods: The neonate presented with severe thrombocytopenia and was unresponsive to NAIT treatments. Genetic testing was conducted because of the unclear family history of thrombocytopenia. Results: Next-generation sequencing revealed a p.Arg1306Trp von Willebrand factor variant, confirming type 2B VWD. Conclusions: This study underscores the critical role of genetic testing in diagnosing challenging cases of neonatal thrombocytopenia, irrespective of family history, and aims to elucidate the clinical manifestations and course of neonatal onset type 2B VWD
- Subjects
VON Willebrand disease; LITERATURE reviews; FAMILY history (Genealogy); VON Willebrand factor; SYMPTOMS
- Publication
Clinical Laboratory, 2024, Vol 70, Issue 8, p1600
- ISSN
1433-6510
- Publication type
Article
- DOI
10.7754/Clin.Lab.2024.240145