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Indian Journal of Pathology and Microbiology
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CASE REPORT
Year : 2021  |  Volume : 64  |  Issue : 5  |  Page : 146-148

Benign recurrent intrahepatic cholestasis - 2 (BRIC-2)/ABCB11 deficiency in a young child – Report from a tertiary care center in South India


1 Department of Pathology, Sree Gokulam Medical College and Research Foundation, Venjaramoodu, Thiruvananthapuram, Kerala, India
2 Department of Gastrosurgery, Sree Gokulam Medical College and Research Foundation, Venjaramoodu, Thiruvananthapuram, Kerala, India

Correspondence Address:
Jinu A Glaxon
Department of Pathology, Sree Gokulam Medical College and Research Foundation, Venjaramoodu - 695 607, Kerala
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/IJPM.IJPM_254_20

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ABCB11 deficiency, formerly benign recurrent intrahepatic cholestasis (BRIC) is a very rare hereditary disorder characterized by the recurrent and intermittent episodes of cholestasis, jaundice, and pruritus. We report the case of a 12-year-old boy presenting with recurrent episodes of jaundice and severe pruritis since childhood. An extensive workup was done to rule out all the possible etiologies. Liver biopsy was done and histopathology was consistent with intrahepatic cholestasis. Immunohistochemistry, enzyme studies, and genetic testing confirmed the diagnosis. The patient was treated with Ursodeoxycholicacid and is on regular follow-up. We report this case due to the rarity of the disease in South India and to highlight the importance of genetic testing, which is the gold standard for diagnosis as well as for the classification of the disease. These patients should be under regular follow-up as those with fibrosis progression are at a risk for cholangiocarcinoma and hepatocellular carcinoma.


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