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

Suzanne Haney1,2, James Harper2, Edward Truemper2

  • 1Children's Hospital & Medical Center, Omaha, Nebraska, shaney@ChildrensOmaha.org.

WMJ : Official Publication of the State Medical Society of Wisconsin
|May 15, 2019
PubMed

Insights

A rare genetic liver condition, progressive familial intrahepatic cholestasis type 2 (PFIC2), can cause severe vitamin K deficiency bleeding (VKDB) in infants. This case highlights the need for comprehensive diagnosis beyond abusive head trauma for intracranial hemorrhages.

Area of Science:

  • Pediatrics
  • Genetics
  • Hematology

Background:

  • Abusive head trauma (AHT) is a critical medical emergency requiring prompt identification to prevent further harm.
  • Intracranial hemorrhage in infants necessitates a thorough diagnostic evaluation to rule out various underlying causes.

Observation:

  • A 4-month-old infant presented with a severe subdural hematoma.
  • Initial suspicion of AHT was raised.
  • Testing revealed vitamin K deficiency bleeding (VKDB) despite prophylaxis.
  • The infant was diagnosed with progressive familial intrahepatic cholestasis type 2 (PFIC2).

Findings:

  • PFIC2, a rare genetic liver disorder, can lead to severe VKDB.
  • This is the first reported case of PFIC2 causing intracranial hemorrhage due to VKDB.

Implications:

  • Comprehensive workup is essential for intracranial bleeding in infants.
  • Consider rare genetic conditions beyond AHT and standard VKDB.
  • This case broadens the differential diagnosis for infantile intracranial hemorrhage.
Abstract

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