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Query: UMLS:C0008370 (cholestasis)
 9,378 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Arteriohepatic dysplasia (Alagille's syndrome) is presumed to be one of the familial intrahepatic cholestatic syndromes, all of which present with neonatal jaundice or failure to thrive, or both. We report the findings in five patients with this syndrome, four of whom have been followed into adulthood. In addition to hepatic dysfunction, patients had abnormalities of the cardiovascular system, eyes, bones, central nervous system, kidney, endocrine system, and habitus. Analysis of these cases allows a more complete characterization of this syndrome and shows that the cholestasis improves, although the abnormalities of the hands and face become more pronounced, with age. Patients with arteriohepatic dysplasia display the variability in expression seen in many autosomal-dominant conditions. New findings in the eye and spine provide markers specific for this syndrome and serve to differentiate it from other forms of cholestatic liver disease.
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PMID:Arteriohepatic dysplasia: a benign syndrome of intrahepatic cholestasis with multiple organ involvement. 48 50

Alagille's syndrome or arteriohepatic dysplasia has been described in Cuba in nine patients between nine months and 12 years of age (8 males and one female). Among the clinical features we found five major abnormalities: chronic cholestasis with neonatal jaundice (9/9), peculiar facies (9/9), peripheral pulmonary artery hypoplasia associated with cardiac murmur (6/9), butter-fly-like arch defects (4/9), and posterior embryotoxon (6/7). Two children had a severe xanthomatosis. Laparoscopy showed green hepatomegaly depending on the degree of cholestasis, and only one patient had incipient signs of micronodular cirrhosis. Liver histology showed a paucity of interlobular bile ducts. Survival was of 60%. One patient survived more than 30 years. Four patients died of liver carcinoma (unique report in infants), broncho-pneumonia, acute renal failure, and sudden death respectively. Among the minor features were mental retardation (5/9), a peculiar voice (3/9), growth retardation observed in some of our patients. This is the first report on Alagille's syndrome in Latin America, because so far reports have come only from Europe and North America.
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PMID:[Alagille's syndrome in Cuba. A report of 9 cases]. 134 Aug 42

To clarify the pathogenesis of hepatic cytomegalovirus (CMV) infection, we clinicopathologically investigated 18 infants and 10 adults with cytomegalic inclusion bodies (CIB) in the liver among a total of 75 autopsy cases with CIB in any organ of the body. CMV infection was confirmed by immunohistochemistry and in situ hybridization. When CIB were present in the liver, CMV infection also tended to be systemic. All the adults were immunocompromised patients, but diseases inducing immunodeficiency were present in only two of the infants. The severe and systemic CMV infections we found in infants might have been associated with congenital CMV infection. Histologically, hepatocyte necrosis, cholestasis, extramedullary hematopoiesis and fatty degeneration were more frequent and prominent in infants than in adults. However, inflammatory cell infiltration was only slight. In addition, the frequent association with premature birth and hypoplasia of the thymus suggested that insufficient development of immunity may result in hepatic CMV involvement in infants. CIB were most frequently observed in hepatocytes in both infants and adults, but in infants they were also frequently seen in the bile duct epithelium. These histopathological findings and the high incidence of jaundice in infant patients suggest that the bile duct is also an important site of CMV proliferation in infants, and that CMV infection may be one cause of infantile jaundice.
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PMID:Clinicopathological study of liver involvement in cytomegalovirus infection in infant autopsy cases. 166 63

The paucity of the intrahepatic bile ducts, also known as ductopenia, is a well recognized disorder in pediatric patients. Recently, however, a similar disorder has been reported in adults and termed idiopathic adulthood ductopenia (IAD). We describe a 30-year-old patient with a 15 year history of episodes of jaundice. During icteric episodes, serum levels of bilirubin and alkaline phosphatase were markedly elevated. Between attacks, totalling more than 30, the patient was asymptomatic, but bilirubin and alkaline phosphatase levels were mildly elevated. No neonatal jaundice was present in the patient's history. PBC, PSC and drug-induced cholestasis were excluded. Two needle biopsies of the liver, taken within a 13 year interval, were available. The lobular architecture appeared progressively disturbed by porto-centro-portal bridging septa. In both biopsies, a destructive cholangitis was found. In the last biopsy, the majority of the septal and interlobular ducts appeared severely damaged and, in three out of seven portal tracts, the interlobular bile duct had disappeared. In the parenchyma, the main feature was a severe mainly canalicular bilirubinostasis. The patient described illustrates that IAD may have a clinical picture indistinguishable from benign recurrent intrahepatic cholestasis. The etiology of the disease, in this as in other patients, remains unknown.
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PMID:Idiopathic adulthood ductopenia presenting with chronic recurrent cholestasis. A case report. 200 71

We reviewed the laboratory parameters, clinical information including presence or absence of stool pigmentation, and ultrasonographic findings in 67 patients with neonatal conjugated hyperbilirubinemia and liver biopsies. Hepatobiliary nuclear scintigraphy was done in 14 of the patients. Final diagnoses included extrahepatic biliary atresia, neonatal hepatitis, cystic fibrosis, metabolic liver disease, alpha 1-antitrypsin deficiency, bile duct stenosis, Alagille syndrome (arteriohepatic dysplasia), choledochal cyst, panhypopituitarism, and miscellaneous causes of intrahepatic cholestasis. A single diagnostic criterion is insufficient to distinguish the various causes of neonatal jaundice. Clinical laboratory values varied widely among patients with medical and surgical causes of jaundice. Absence of stool pigmentation was not specific for biliary atresia and was found in patients with medical causes of jaundice. Conversely, two patients with biliary atresia had pigmented stools at presentation. Ultrasonography was diagnostic only for choledochal cyst and bile duct stenosis. Nonvisualization of the gallbladder by either ultrasonography or nuclear hepatobiliary scintigraphy was nonspecific in the discrimination of medical from surgical causes of jaundice. A multidisciplinary approach to the evaluation of neonatal jaundice is necessary, since no single test or imaging modality can reliably define the cause in all cases.
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PMID:Neonatal jaundice: clinical and ultrasonographic findings. 218 86

Bronze baby syndrome is an infrequent complication of phototherapy for neonatal jaundice which develops in infants with liver disease. The characteristic feature is a grayish-brown discoloration of the skin, plasma and urine. Three cases are reported. There was one case each of bile duct atresia, galactosemia, and parenteral nutrition with cholestasis. The pigment responsible for the discoloration has not been identified and pathogenesis remains unelucidated. The bronze color disappears spontaneously and the prognosis is dependent on the causative liver disease for which investigations should be performed routinely.
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PMID:[The bronze baby syndrome Apropos of 3 cases]. 229 94

Septo-optic dysplasia (SOD), an unusual clinical syndrome associated with intrahepatic cholestasis, is a cause of false-positive hepatobiliary scintigraphy in patients with neonatal jaundice. Use of the criterion of absence of [99mTc]IDA activity in the gastrointestinal tract by 24 hr, as well as application of the more recently used criterion of normal hepatic extraction, failed to differentiate patients with biliary atresia from those with SOD. Septo-optic dysplasia has clinical and scintigraphic features unique from other causes of conjugated hyperbilirubinemia. Identification of the patients with SOD, in a group of 44 infants being evaluated for neonatal jaundice, improved the overall specificity of hepatobiliary scintigraphy in neonatal jaundice from 65% to 79% and accuracy in identification of patients with biliary atresia from 82% to 90%. Recognition of SOD is important to prevent unnecessary surgical exploration of these patients.
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PMID:Septo-optic dysplasia: recognition of causes of false-positive hepatobiliary scintigraphy in neonatal jaundice. 358 4

Alagille 's syndrome, described in 1970, associates a chronic intrahepatic cholestasis (hypoplasia of the interlobulary biliary ducts), vertebral and visceral malformations, retarded physical, mental and sexual development and neonatal jaundice. A series of cutaneous manifestations are reviewed in their clinical, histological and ultrastructural aspects. Its relation with the zinc deficiency syndrome is discussed.
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PMID:[Alagille's syndrome. Clinical and histo-pathologic study]. 673 21

Hepatobiliary scintigraphy with technetium 99m-labeled p-isopropylacetanilido iminodiacetic acid (99mTc-PIPIDA) was used to evaluate 22 neonates with mixed jaundice. Ten patients were proved to have biliary atresia; ten others were diagnosed as having neonatal hepatitis. In the remaining two, jaundice was secondary to prolonged hyperalimentation. Initial studies in all ten patients with biliary atresia showed no evidence of excretion of the tracer into the intestinal tract. Following three to seven days of oral administration of phenobarbital, repeat studies were performed in six of the ten patients. None showed evidence of excretion. Initial studies of the 12 patients with intrahepatic cholestasis showed definite excretion in five, questionable evidence of excretion in two, and no demonstrable excretion in five. Studies after phenobarbital therapy in five of the seven patients with questionable or no excretion on the initial studies showed definite excretion in four. Only in one patient who had poor hepatic extraction did the phenobarbital therapy not change the scintigraphic pattern. The authors conclude that hepatobiliary scintigraphy with 99mTc-PIPIDA after three to seven days of phenobarbital therapy is a highly accurate test for differentiating biliary atresia from other causes of neonatal jaundice.
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PMID:Hepatobiliary scintigraphy with 99mTc-PIPIDA in the evaluation of neonatal jaundice. 678 55

The ocular findings in a father and two offspring with arteriohepatic dysplasia are reported in this paper. All three people had bilateral posterior embryotoxon, Axenfeld's anomaly and a pigmentary retinopathy. Other ocular findings were exotropia, an ectopic pupil, band keratopathy, choroidal folds, anomalous optic discs and infantile myopia. Persons with arteriohepatic dysplasia typically present with prolonged neonatal jaundice. Cognizance of the associated eye findings helps distinguish this syndrome from other types of familial intrahepatic cholestasis.
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PMID:Ocular findings in arteriohepatic dysplasia (Alagille's syndrome). 679 44


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