A Case of Nonsyndromic Intrahepatic Bile Duct Paucity with Congenital Bilateral Vocal Cord Paralysis and 13q Deletion / 대한소아소화기영양학회지

Nonsyndromic intrahepatic bile duct paucity is known to be associated with several kinds of etiology such as infection, chromosomal anomaly, metabolic disease and idiopathic. We report a rare case of intrahepatic bile duct paucity with congenital bilateral vocal cord paralysis and 13q deletion.

Clinical Evaluation of Syndromic and Nonsyndromic Intrahepatic Bile Duct Paucity / 대한소아소화기영양학회지

PURPOSE: The aims of this study were to evaluate the clinical manifestations and prognosis of the syndromic and nonsyndromic intrahepatic bile duct paucity (IHBDP). METHODS: We studied histology of 42 infants with neonatal cholestasis. Fourteen patients were diagnosed as IHBDP. We evaluated the clinical manifestations, courses and prognosis retrospectively. RESULTS: 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. CONCLUSION: This study suggested that IHBDP should be considered in the differential diagnosis of neonatal cholestasis. The outcome of idiopathic IHBDP was better than predicted.