An 8-day-old male neonate presents with persistent oozing from the umbilical stump and a cephalhematoma. PT, aPTT, platelet count and fibrinogen are all normal. Bleeding time is normal. Clot formed in a test tube dissolves after 24 to 48 hours in urea. The most likely diagnosis is:
- A Hemophilia A
- B Factor XIII deficiency ✓
- C Glanzmann thrombasthenia
- D Afibrinogenemia
Correct answer: B. Factor XIII deficiency
Explanation
Factor XIII cross-links fibrin monomers, stabilizing the clot against fibrinolysis. Deficiency gives delayed umbilical stump hemorrhage and poor wound healing with entirely normal screening tests (PT, aPTT, platelet count), so the diagnosis requires the urea solubility test or specific factor assay. In hemophilia A the aPTT is prolonged, afibrinogenemia prolongs both PT and aPTT, and Glanzmann thrombasthenia prolongs bleeding time.
Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.