• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.4 no.1
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• pp.108-112
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• 2001

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.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.17 no.2
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• pp.121-124
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• 2014

Omega (${\omega}$)-3 polyunsaturated fatty acids appear to be effective in preventing and treating parenteral nutrition-associated liver disease, and several mechanisms were proposed for this observation. An 8-week-old male infant with cholestasis and acholic stool was diagnosed non-syndromic intrahepatic interlobular bile duct paucity by open-wedge liver biopsy. Initially he was treated with usual supportive medical therapy, including ursodeoxycholic acid. However, the clinical status and laboratory tests did not improve. Omega (${\omega}$)-3 polyunsaturated fatty acids (initially intravenous administration and oral administration later), were started and his liver function, including aminotransferase level and bilirubin levels normalized, and the ivory stool color turned green. We report the possible effectiveness of ${\omega}$-3 polyunsaturated fatty acids as a potent choleretic agent for non-syndromic intrahepatic interlobular bile duct paucity, a very rare structural pediatric hepatic disease.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.2 no.2
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• pp.178-184
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• 1999

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.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.11 no.1
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• pp.65-69
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• 2008

A two-month-old baby had acholic stool, neonatal hyperbilirubinemia and congenital heart disease. Atresia of the hepatic duct was confirmed by open cholangiography, which showed a non-opacified intrahepatic bile duct. Liver biopsy and the Kasai operation were performed. Because the liver biopsy pathology revealed a paucity of intrahepatic bile ducts, the patient was diagnosed with the Alagille syndrome. We report the case of an infant diagnosed with the Alagille syndrome with atresia of the hepatic duct.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.22 no.2
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• pp.201-206
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• 2019

Benign recurrent intrahepatic cholestasis (BRIC), a rare cause of cholestasis, is characterized by recurrent episodes of cholestasis without permanent liver damage. BRIC type 2 (BRIC2) is an autosomal recessive disorder caused by ABCB11 mutations. A 6-year-old girl had recurrent episodes of jaundice. At two months of age, jaundice and hepatosplenomegaly developed. Liver function tests showed cholestatic hepatitis. A liver biopsy revealed diffuse giant cell transformation, bile duct paucity, intracytoplasmic cholestasis, and periportal fibrosis. An ABCB11 gene study revealed novel compound heterozygous mutations, including c.2075+3A>G in IVS17 and p.R1221K. Liver function test results were normal at 12 months of age. At six years of age, steatorrhea, jaundice, and pruritus developed. Liver function tests improved following administration of phenylbutyrate and rifampicin. Her younger brother developed jaundice at two months of age and his genetic tests revealed the same mutations as his sister. This is the first report of BRIC2 confirmed by ABCB11 mutations in Korean siblings.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.15 no.2
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• pp.117-121
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• 2012

Down syndrome is a rare cause of neonatal cholestasis. Neonatal cholestasis in a patient with Down syndrome is usually associated with severe liver diseases, such as neonatal hemochromatosis, myeloproliferative disorder and intrahepatic bile duct paucity. We experienced a case of idiopathic neonatal cholestasis in a patient with Down syndrome, which resolved spontaneously.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.3 no.1
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• pp.17-21
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• 2007

Alagille syndrome is an autosomal dominant genetic disorder and occurs in approximately 1 in 100,000 live births. Diagnostic criteria was established by Alagille. It is mainly caused by a mutation in the Jagged1 gene. Major clinical features of this syndrome are paucity of intrahepatic bile duct with cholestasis, characteristic facies, cardiac murmur, defects of vertebrae, and embryotoxon. And minor clinical features are mental retardation, renal involvement, growth retardation, other skeletal abnormalities, a high-pitched voice. The surviving prognosis of Alagille syndrome patients depends on the severity of cardiovescular malformation in the early ages of infant. However, with the increasing years, it depends on the severity of the liver disease. Cholestasis causes congenital jaundice, malnutrition and growth retardation. Also, the increase of serum cholesterol level cause xanthoma and pruritus. Even though the severity of these problems are reduce with age, there is cases where there is no way but liver transplantation. For oral features of Alagille syndrome patients, green discoloration of entire dentition, induced by bilirubin infiltration into dentinal tubules, is especially. Also, xanthoma on gingiva and partial hypodontia have been reported. This report is on the oral features of an Alagille syndrome patient who visited to Kyung-Pook University Hospital.

• Clinical and Experimental Pediatrics
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• v.46 no.1
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• pp.86-90
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• 2003

Alagille syndrome is a autosomal dominant disorder characterized by intrahepatic bile duct paucity and resultant chronic cholestasis in combination with cardiac(mainly peripheral pulmonary stenosis), skeletal, ocular, and facial abnormalities. In addition to the pulmonary stenosis, in large series, anecdotal reports of vascular lesions have concerned the renal artery, aorta, hepatic artery, carotid artery, celiac artery or subclavian artery. Theses diffuse vascular abnormalities, which appear to be a feature of Alagille syndrome, suggest Notch signaling pathway defects affect angiogenesis. The associations of Alagille syndrome with moyamoya disease, the chronic cerebrovascular occlusive disease, were reported and suggested as additional evidence of vasculopathy of Alagille syndrome. We report another 25 month-old Alagille syndrome girl who presented with acute left hemiparesis and was diagnosed with moyamoya disease through the cerebral angiographic study.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.3 no.1
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• pp.63-67
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• 2000

Purpose: Biliary atresia, one of the major causes of neonatal cholestais, is an idiopathic, serious disorder, affecting the newborn that results in complete obstruction of biliary tract. Successful reestablishment of bile flow is dependent on early surgical intervention, early diagnosis is imperative. The authors evaluate the utility of Tc-99m-labeled diisoprpyliminodiacetic acid (DISIDA) hepatobiliary scintigraphy in the diagnosis of biliary atresia. Methods: From January, 1995 to August, 1999, total 60 patients with neonatal cholestasis underwent Tc-99m DISIDA hepatobiliary scintigraphy at Asan Medical Center. Results: The undelying causes of neonatal cholestasis were biliary atresia in 14, neonatal hepatitis in 33, intrahepatic bile duct paucity in 9, and total parenteral nutrition induced cholestasis in 4. All patient with biliary atresia were interpreted correctely in DISIDA hepatobiliary scintigraphy, showing 100% sensitivity. Of the 46 patients with neonatal hepatitis and other causes, 37 patients had intestinal radioactivity showing 80% specificity. Conclusion: Visualization of DISIDA in the intestinal tract indicates patency of the biliary ducts and excludes the diagnosis of biliary atresia. But the absence of intestinal excretion on the DISIDA hepatobiliary scintigraphy dose not necessarily indicate biliary atresia.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.2 no.1
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• pp.46-58
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• 1999

Purpose: The aim of the present study was to evaluate the long-term clinical profile including the underlying etioligy and the prognostic factors of the neonatal cholestasis. Method: We studied the 190 infants presented with neonatal cholestasis for the last 12 years (from 1981 to 1992). The underlying causes, clinical findings and long-term outcomes were evaluated. And the prognostic factors were also analyzed. Result: Underlying disease were neonatal hepatitis in 101 (idiopathic in 77 and infectious in 24), intrahepatic bile duct paucity in 5, biliary atresia in 79, choledochal cyst in 5. Metabolic disease was not observed in this study. The important clinical problems during follow-up were persistent high fever, gastrointestinal bleeding, hepatic encephalopathy and ascites. The main causes of the death were hepatic encephalopathy and gastrointestinal bleeding. While three fourth of infants with idiopathic and infectious neonatal hepatitis recovered usually within a year, five-year survival rate for biliary atresia was just 40%, the mortality observed usually within the first year after Kasai operation and prognostic factor was the time of operation. Underlying disease was the most important prognostic factor of neonatal cholestasis. Conclusion: This study showed that most common causes of neonatal cholestasis were biliary atresia and idiopathic neonatal hepatitis, infectious neonatal hepatitis, choledochal cyst and Alagille syndrome, but few neonatal cholestasis of genetic or metabolic liver disease was observed. The most important long-term prognostic factor of neonatal cholestasis was the underlying disease.