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WMJ Vol. 118 No. 1: Case Report

Progressive Familial Intrahepatic Cholestasis Presenting With an Intracranial Bleed and Mimicking Abusive Head Trauma

Suzanne Haney, MD; James Harper, MD; Edward Truemper, MD


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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 intrahepatic 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.

Author Affiliations: Children’s Hospital & Medical Center (Haney); University of Nebraska Medical Center (Haney, Harper, Truemper), Omaha, NE.

Corresponding Author: Suzanne Haney, MD, Children’s Hospital & Medical Center, 8200 Dodge St, Omaha, NE 68114-4113; phone 402.955.6572; fax 402.955.4184; email shaney@ChildrensOmaha.org.

Funding/Support: None declared.

Financial Disclosures: None declared.