What is the diagnosis for an infant with persistent bleeding 12 hours after circumcision, with elevated Prothrombin Time (PT) and Partial Thromboplastin Time (PTT), and a family history of bleeding disorder, specifically a maternal uncle with a known bleeding disorder?

Vitamin K Deficiency Bleeding (VKDB)

This infant most likely has Vitamin K Deficiency Bleeding (VKDB), which classically presents with both elevated PT and PTT, bleeding after circumcision in the first days to weeks of life, and can occur in families where it may be mistaken for an inherited bleeding disorder. 1

Why VKDB is the Primary Diagnosis

The simultaneous elevation of both PT and PTT is pathognomonic for vitamin K deficiency because it affects multiple coagulation factors (II, VII, IX, and X) that are all vitamin K-dependent, causing prolongation of both the extrinsic and intrinsic pathways. 1 This laboratory pattern distinguishes VKDB from other bleeding disorders:

• Hemophilia A or B would only prolong the PTT, not the PT, since factors VIII and IX are part of the intrinsic pathway only 1
• Von Willebrand disease would show prolonged bleeding time due to impaired platelet adhesion, which is not the pattern here 1
• Factor XIII deficiency would show normal PT and PTT despite severe bleeding, making it incompatible with this presentation 2

Critical Clinical Features Supporting VKDB

Circumcision bleeding is one of the classic presentations of VKDB in newborns, along with umbilical stump bleeding, generalized ecchymoses, and intramuscular hemorrhages. 1 The timing at 12 hours post-circumcision fits the early or classical VKDB timeframe (0-7 days of life). 1

The family history of a maternal uncle with bleeding disorder may be a red herring - VKDB can recur in families where vitamin K prophylaxis is refused or not administered, creating the appearance of an inherited pattern. 1 Not all states or institutions mandate vitamin K administration at birth, and compliance varies significantly. 1

Immediate Diagnostic Confirmation and Management

Administer 1 mg vitamin K intramuscularly or intravenously immediately while awaiting confirmatory laboratory correction - do not delay treatment for further testing. 1

The diagnosis is confirmed by rapid correction of PT/PTT within 30 minutes to 2-4 hours after vitamin K administration. 1 This rapid response is diagnostic and distinguishes VKDB from inherited coagulation factor deficiencies.

For life-threatening bleeding, consider fresh-frozen plasma (FFP) for immediate factor replacement while vitamin K takes effect. 1

Essential History to Obtain

Verify whether vitamin K prophylaxis was administered at birth - this is the single most important historical detail, as absence of prophylaxis is a significant risk factor for VKDB. 1

Determine if the infant is exclusively breastfed, as breast milk contains insufficient vitamin K and is a primary risk factor for VKDB. 1

Common Pitfall to Avoid

Do not assume this is an inherited bleeding disorder based solely on family history and elevated PT/PTT. 3 The American Academy of Pediatrics notes that significant bleeding after circumcision increases the possibility of a bleeding disorder, but VKDB must be ruled out first given its treatability and the laboratory pattern. 3 Prolongation of PT and PTT can also occur from specimen handling issues or other acquired causes. 3

If vitamin K administration does NOT correct the coagulopathy within 2-4 hours, then pursue evaluation for inherited bleeding disorders with pediatric hematology consultation and specific factor assays. 4