Subgaleal Hematoma in a Pediatric Patient with Factor XI Deficiency: A Case Report of Combined Rare Pathologies

BACKGROUND Factor XI (FXI) deficiency is a rare autosomal recessive bleeding disorder, often characterized by variable and unpredictable bleeding tendencies. The clinical severity in FXI deficiency typically does not correlate with factor levels, making diagnosis and management particularly challenging. When FXI deficiency coexists with other hemostatic abnormalities, such as von Willebrand factor deficiency, the bleeding risk increases, especially in pediatric patients. Subgaleal hematomas, although typically seen in neonates following birth trauma, are rare in older children and can signal an underlying coagulopathy when occurring after minor trauma. CASE REPORT We report the case of a 6-year-old Saudi girl with a known diagnosis of FXI deficiency who presented with recurrent subgaleal hematomas following trivial head trauma. Despite plasma replacement with fresh frozen plasma, she experienced hematoma expansion and required intensive management, including recombinant activated factor VII and antifibrinolytic therapy with tranexamic acid. Her FXI levels ranged from less than 15% to 52% during different episodes, and a persistently prolonged activated partial thromboplastin time was observed. Further evaluation revealed a coexisting deficiency in von Willebrand factor activity, suggesting a combined congenital bleeding disorder. The patient's clinical course stabilized following a multi-modal treatment approach, and she was discharged in good condition. CONCLUSIONS This case highlights the diagnostic complexity and clinical severity of combined bleeding disorders in children. It underscores the importance of comprehensive coagulation workup in pediatric patients presenting with disproportionate or recurrent bleeding. Individualized, multidisciplinary management is critical for optimal outcomes, especially in the setting of rare and coexisting coagulopathies.