Caroli's Syndrome: An Early Presentation

Area of Science:

• Hepatology and Genetics
• Pediatric Gastroenterology

Background:

• Fibropolycystic liver disorders (FLD) encompass conditions arising from abnormal ductal plate development, classified by affected bile duct size.
• Congenital hepatic fibrosis (CHF) involves small ducts with fibrosis and hyperplasia, while Caroli's disease (CD) features cystic dilation of large intrahepatic ducts.

Observation:

• A two-year-old male with autosomal recessive polycystic kidney disease (ARPKD) presented with variceal bleeding due to portal hypertension.
• Physical examination revealed pallor and abdominal distension. Imaging showed hepatosplenomegaly, altered liver echogenicity, and dilated bile ducts, suggesting CD.
• Liver biopsy confirmed CHF, and kidney imaging showed enlarged, hyperechoic kidneys with loss of corticomedullary differentiation.

Findings:

• The patient presented with severe complications of portal hypertension, including esophageal varices and variceal bleeding.
• Diagnostic findings strongly indicated Caroli's disease (CD) coexisting with congenital hepatic fibrosis (CHF) in a young child with ARPKD.
• The case underscores the significant association between ARPKD and fibropolycystic liver disorders (FLD), particularly Caroli's syndrome (CS).

Implications:

• Early evaluation for liver abnormalities in ARPKD patients is crucial due to the high incidence of coexisting hepatobiliary conditions.
• This case emphasizes the need to suspect Caroli's syndrome (CS) in pediatric patients presenting with FLD and ARPKD, even in early childhood.
• Recognizing the association between ARPKD and FLD facilitates timely diagnosis and management of these complex conditions.