Three cases of congenital hepatic fibrosis with Caroli's disease in three siblings

Abstract

Congenital hepatic fibrosis is a relatively rare disease of children and young adults characterized by hard hepatomegaly, portal hypertension with relative preservation of liver function and underlying architecture, and frequent renal involvement. We experienced 3 cases of congenital hepatic fibrosis with Caroli's disease in 3 siblings, whose clinical manifestations were diverse, such as repeated cholangitis, variceal hemorrhage, or intrahepatic stones. All of them had multiple renal cysts, so we supposed that the clinical entities of these patients were in the spectrum of fibropolycystic disease of the liver and kidney.

Fig. 1.

The Liver Biopsy Finding in Case 1. A. Proliferation and dilatation of the bile ducts and diffuse portal fibrosis are shown. H & E stain, magnification × 100. B. There are relatively well preserved hepatic cell cords surrounded by fibrosis and bizarre-shaped ectatic bile ductules. H & E stain, magnification × 250.

Fig. 2.

Abdominal computed tomography in case 1. A. Hepatomegaly with dilatation of the intrahepatic bile duct is demonstrated. The spleen is not seen due to previous splenectomy. B. Multiple cysts are noted in both kidneys.

Fig. 3.

Abdominal computed tomography in Case 2. A. Hepatomegalv with dilatation of the intrahepatic bile duct is noted. The spleen and gallbladder are not seen due to previous splenectomy and cholecystectomy. B. Multiple renal cysts and marked scoliosis are noted.

Fig. 4.

Abbominal computed tomography in Case 3. A. Hepatosplenomegaly and dilated intrahepatic bile duct with stones are demonstrated. There are also multiple hepatic cysts. B. Multiple cysts are noted in both kidneys.

Fig. 5.

The pedigree of presented cases. The arrows indicate the presented cases, and the numeral letter represents the age.