The aims of this study were to evaluate the clinical manifestations and prognosis of the syndromic and nonsyndromic intrahepatic bile duct paucity (IHBDP).

We studied histology of 42 infants with neonatal cholestasis. Fourteen patients were diagnosed as IHBDP. We evaluated the clinical manifestations, courses and prognosis retrospectively.

Underlying disease of the 42 infants with neonatal cholestasis were biliary atresia in 23, intrahepatic bile duct paucity in 14 (Alagille syndrome in 4 and nonsyndromic IHBDP in 10), neonatal hepatitis in 5 infants. The mean ratio of the bile ducts per portal tract was 0.087 (range: 0~0.5). The manifestations in 4 patients with Alagille syndrome demonstrated as follows: characteristic face in 3, chronic cholestasis in 4, posterior embryotoxon in 2, vertebral anomalies in 2, peripheral pulmonary stenosis in 2. One of 4 patients of Alagille syndrome improved cholestasis and the other 3 patients were remained their cholestasis and growth retardation. All patients of the nonsyndromic IHBDP were idiopathic. Seven out of 8 patients of nonsyndromic IHBDP showed improvement of cholestasis, and one patient received liver transplantation due to cirrhosis.

This study suggested that IHBDP should be considered in the differential diagnosis of neonatal cholestasis. The outcome of idiopathic IHBDP was better than predicted.