Mucosal Bleeding in a Newborn With Low Factor VIII Activity: An Unusual Combination of Type 2A and Type 2N von Willebrand Disease

Key Points

• This case aims to explore the complications arising from atypical presentations of von Willebrand disease (VWD) in a newborn.
• Detailed clinical evaluation of the newborn's bleeding symptoms.
• Comprehensive laboratory tests for factor VIII and VWD.
• Genetic analysis to identify novel variants linked to VWD.
• Detected low factor VIII activity in the newborn.
• Characterized the disease as a combination of Type 2A and Type 2N VWD.
• Highlighted the need for tailored diagnostic strategies in complex bleeding cases.

Abstract