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Case Reports
. 2024 Apr 6;11(4):e01312.
doi: 10.14309/crj.0000000000001312. eCollection 2024 Apr.

Progressive Familial Intrahepatic Cholestasis-2 Mimicking Non-accidental Injury

Saigopala Reddy  1 , Nathan Fleishman  2 , Katherine Dempsey  3 , Edwin Ferren  3 , Michal Kamionek  4 , Vani V Gopalareddy  2
Affiliations
Case Reports

Progressive Familial Intrahepatic Cholestasis-2 Mimicking Non-accidental Injury

Saigopala Reddy et al. ACG Case Rep J. .

Abstract

Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of disorders characterized by defective secretion of bile acids or transport defects resulting in progressive cholestasis. These disorders usually present during infancy or childhood and are associated with progressive liver disease. PFIC is estimated to affect 1 in 50,000-100,000 births, with PFIC-2 representing half of PFIC cases. PFIC-2 presents with hepatosplenomegaly, jaundice, pruritus, fat-soluble vitamin deficiencies, and growth failure. Laboratory findings include low/normal gamma glutamyl transpeptidase levels and elevated bilirubin, transaminases, and alpha-fetoprotein levels. In this report, we present a case of PFIC-2 presenting with severe coagulopathy, bruising, subcutaneous hematomas, and acute-onset anemia.

Keywords: ABCB11; Cholestatic Jaundice; PFIC2; coagulopathy; progressive familial intrahepatic cholestasis.

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Figures

Figure 1.
Figure 1.
(A) H&E stain: low-power giant cells (black arrows) with cholestasis (blue arrows). (B) Trichrome stain: low-power perisinusoidal fibrosis (blue arrow) with expansion of portal tracts (yellow arrow).
Figure 2.
Figure 2.
Multiple bruises on the neck and upper chest.
Figure 3.
Figure 3.
Multiple bruises on the axilla and abdomen.
Figure 4.
Figure 4.
Multiple bruises on the lower back.
See this image and copyright information in PMC

References

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