Neonatal Onset Type 2B von Willebrand Disease due to p.Arg1306Trp Variant: a Case Report and a Literature Review.

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.