From Frenulum Tear to Transfusion—An Unexpected Diagnosis of Hemophilia in a Toddler: A Case Report
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From Frenulum Tear to Transfusion—An Unexpected Diagnosis of Hemophilia in a Toddler: A Case Report

Abstract

Introduction: Labial frenulum tears in infants are commonly associated with minor trauma but may raise concern for nonaccidental injury. These injuries are typically benign and self-limiting; however, persistent or excessive bleeding should prompt evaluation for an underlying bleeding disorder. Hemophilia A is an X-linked factor VIII deficiency with clinical symptoms that vary based on the level of severity.

Case Report: A previously healthy 14-month-old male presented to the pediatric emergency department three times within 10 days for persistent bleeding from a superior labial frenulum tear sustained after minor trauma. Initial examination was reassuring, and he was discharged without laboratory evaluation. On repeat presentation, he was found to have normocytic anemia and isolated prolonged activated partial thromboplastin time. Despite topical and oral antifibrinolytic therapy, he returned with worsening anemia, melena, hematemesis, pallor, and tachycardia. He required a packed red blood cell transfusion, intravenous aminocaproic acid, and hospitalization. Further hematologic evaluation revealed a low factor VIII activity level, confirming mild hemophilia A. There was no prior personal or family history of abnormal bleeding.

Conclusion: This case highlights that hemophilia A may initially present with disproportionate bleeding from a minor mucosal injury, even in the absence of a known bleeding history. Persistent bleeding after minor trauma warrants prompt coagulation evaluation to prevent diagnostic delay and serious complications.