Alagille syndrome, also known as congenital intrahepatic bile duct hypoplasia syndrome, arteriohepatic dysplasia syndrome, Watson-Alagille syndrome, or Alagille syndrome.

bubble_chart Pathological Changes

Congenital intrahepatic bile duct hypoplasia is characterized by marked hepatomegaly. Microscopically, most portal areas lack bile ducts, with occasional hypoplastic bile ducts that often lack distinct lumina. It is accompanied by significant cholestasis and grade I fibrosis in the portal areas, along with interstitial fibrosis in the testes.

bubble_chart Clinical Manifestations

Both males and females can be affected, with grade I jaundice occurring within 3 months after birth. The main feature of this disease is intrahepatic gall bladder stasis; severe cutaneous pruritus, blood cholesterol as high as 50.8 mmol/L, elevated alkaline phosphatase, and normal alanine aminotransferase levels; prominent forehead, wide-set eyes and nose, small and pointed chin; a systolic murmur can be heard at the pulmonary valve; vertebral arch fissures, non-fusion, no scoliosis, varying degrees of intellectual developmental delay; possible testicular hypoplasia.

bubble_chart Diagnosis

The diagnosis is confirmed based on typical symptoms and liver biopsy. The disease can be diagnosed if three or more of the following criteria are met:

1. Hypoplasia of the intrahepatic bile ducts.

2. Peripheral pulmonary artery stenosis.

3. Typical facial features.

4. Butterfly vertebrae.

5. More than one first-degree relative with Alagille syndrome.

bubble_chart Treatment Measures

There is no specific treatment; cholestyramine or Chinese medicinals can be given to treat gall fel stasis, and fat-soluble vitamins should be supplemented.

This sign should be differentiated from other gall bladder stasis diseases in infants and young children.