Caroli's Disease in a Child: A Rare Case Report

Abstract

Introduction: Caroli's disease is a rare hereditary condition. It is characterized by segmental dilatation of the large intrahepatic bile duct with a cyst-like appearance. Caroli's disease is often found on typical imaging without specific symptoms. It can lead to progressive bile duct obstruction and cirrhosis. Therefore, early diagnosis and appropriate treatment are necessary for optimal outcomes and prognosis.

Case presentation: A 12-month-old girl presented to the outpatient clinic of Dr. Soetomo General Academic Hospital, Surabaya, with complaints of jaundice, abdominal distension, pale stools dark tea-colored urine, hematemesis, pallor, and weight loss. She was malnourished and had anemic conjunctiva, icteric sclera, abdominal distension with hepatosplenomegaly, varicose veins on the abdominal wall, and edema in both lower extremities. Laboratory examination showed anemia (hemoglobin 7.3 g/dL), liver function abnormalities (Aspartate aminotransferase 191 U/L, Alanine aminotransferase 41 U/L, and Gamma-glutamyl transferase 148.3 U/L), hypoalbuminemia (albumin 2.47), cholestasis (total bilirubin 18.90 mg/dl and direct bilirubin 12.5 mg/dl), non-reactive HBsAg and reactive Cytomegalovirus Immunoglobulin G (IgG). Abdominal ultrasound showed cystic dilatation of right and left intrahepatic bile ducts consistent with Caroli's disease (Todani classification) with hepatomegaly. MRCP showed Caroli’s disease with multiple cystic dilatations of the right and left intrahepatic bile duct (IHBD), multiple peripheral small bile ductal dilatations, and hepatosplenomegaly.

Conclusion: Appropriate imaging is critical in establishing the diagnosis due to the nonspecific clinical presentation of Caroli's disease. Caroli’s disease can result in biliary cirrhosis. Therefore, early diagnosis is necessary for the improvement of the outcome and prognosis of Caroli's disease