What is the most likely diagnosis for a newborn with delayed separation of the umbilical cord, bleeding from the umbilical stump, prolonged Prothrombin Time (PT) and Partial Thromboplastin Time (PTT), and a normal platelet count?

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Vitamin K Deficiency

The most likely diagnosis is Vitamin K deficiency (Option C), which classically presents with umbilical stump bleeding, prolonged PT and PTT, and normal platelet count in newborns. 1

Why Vitamin K Deficiency is the Answer

Vitamin K deficiency affects multiple coagulation factors simultaneously (factors II, VII, IX, and X), which explains why both PT and PTT are prolonged. 1 This is the hallmark laboratory pattern that distinguishes it from other bleeding disorders. 1

Classic Clinical Presentation

  • Umbilical stump bleeding is a pathognomonic presentation of vitamin K deficiency bleeding (VKDB) in newborns. 1
  • The combination of prolonged PT with normal fibrinogen and platelet count is almost diagnostic of VKDB in a bleeding infant. 1
  • Other typical presentations include bleeding from circumcision, generalized ecchymoses, and intramuscular hemorrhages. 1

Diagnostic Confirmation

  • The diagnosis is confirmed by rapid correction of PT/PTT within 30 minutes to 2-4 hours after vitamin K administration. 1
  • Measurement of proteins induced by vitamin K absence (PIVKA-II) can provide additional confirmation if the infant has already received vitamin K or fresh-frozen plasma. 1

Why the Other Options Are Incorrect

Factor XIII Deficiency (Option A) - EXCLUDED

  • Factor XIII deficiency presents with normal PT, PTT, and platelet count—not prolonged PT and PTT as in this case. 2, 3
  • While delayed umbilical cord separation (beyond 2-3 weeks) with bleeding is classic for Factor XIII deficiency, the prolonged PT and PTT in this patient rule it out. 2, 4
  • Factor XIII activity is not detected by routine coagulation panels because these tests only measure clot formation time, not clot stability. 2

Von Willebrand Disease (Option B) - EXCLUDED

  • Von Willebrand disease would show prolonged bleeding time due to impaired platelet adhesion, and the bleeding time is normal in this case. 1
  • Severe cases might show prolonged PTT and abnormal platelet function testing, which are not present here. 2, 3
  • Normal platelet count and function effectively exclude von Willebrand disease. 3

Thrombocytopenia (Option D) - EXCLUDED

  • The platelet count is explicitly stated as normal, which completely rules out thrombocytopenia. 2, 3

Immediate Management

Administer 1 mg vitamin K intramuscularly or intravenously immediately while awaiting confirmatory laboratory correction. 1

  • For life-threatening bleeding, consider fresh-frozen plasma for immediate factor replacement. 1
  • Expected response: shortened prothrombin time within 2-4 hours. 1
  • If coagulopathy does not correct after vitamin K administration, pursue further evaluation for inherited bleeding disorders. 1

Critical Risk Factor to Assess

Determine if vitamin K prophylaxis was administered at birth, as compliance varies and some institutions/states do not mandate it. 1

  • Breast-feeding is a primary risk factor for VKDB, as breast milk contains insufficient vitamin K. 1
  • The absence of vitamin K prophylaxis at birth is the most significant risk factor for VKDB. 1

References

Guideline

Vitamin K Deficiency Diagnosis and Management

Praxis Medical Insights: Practical Summaries of Clinical Guidelines, 2026

Guideline

Factor XIII Deficiency Diagnosis and Management

Praxis Medical Insights: Practical Summaries of Clinical Guidelines, 2025

Guideline

Factor XIII Deficiency Diagnosis and Management

Praxis Medical Insights: Practical Summaries of Clinical Guidelines, 2025

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Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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