Progressive familial intrahepatic cholestasis presenting with an intracranial bleed and mimicking abusive head trauma

Introduction: Abusive head trauma is a serious, often fatal condition; early identification is important to prevent repeat episodes and/or injuries to siblings. This case emphasizes the importance of a thorough workup in cases of suspected abusive head trauma. Case Presentation: A 4-month-old infant was found to have a severe subdural hematoma requiring surgical evacuation. Initially, abusive head trauma was considered as a diagnosis. Testing revealed vitamin K deficiency bleeding (VKDB) despite prophylactic vitamin K administration at birth. The infant eventually was diagnosed with progressive familial Iintrahepatic cholestasis type 2 (PFIC2). Discussion: Although VKDB is a known cause of infantile intracranial hemorrhage, PFIC has not been previously reported to cause severe VKDB resulting in an intracranial hemorrhage. Conclusion: Our case illustrates the importance of a comprehensive systematic approach to investigate causes other than abusive head injury when intracranial bleeding is a significant finding.