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Query: UMLS:C0033774 (pruritus)
 14,546 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests 5 major features: paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects and peripheral pulmonic stenosis. We report a 6-year-old male child who presented with a history of progressive jaundice since infancy, generalized pruritus and widespread cutaneous xanthomata. He was also found to have obstructive jaundice, pulmonary stenosis with ventricular septal defect and paucity of bile ducts in liver biopsy. Histopathology confirmed skin lesions as xanthomata. The child was diagnosed as a case of Alagille syndrome. This particular syndrome with prominent cutaneous manifestations has been rarely reported in the Indian literature.
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PMID:Alagille syndrome with prominent skin manifestations. 1639 88

Median entrapment neuropathy or carpal tunnel syndrome is uncommon in children. The majority of cases are related to genetic conditions which result in skeletal dysplasia or altered connective tissue characteristics, direct injury to the median nerve caused by intensive sports or trauma, or hereditary neuropathy with liability to pressure palsies. This report describes a 10-year-old patient with Alagille syndrome who presented with poor fine motor skills because of an entrapment neuropathy of the median nerve at the wrist. This condition was probably caused by intermittent external compression at the wrists due to years of rubbing both wrists and hands to relieve pruritus. To our knowledge, median neuropathy has never been associated with Alagille syndrome, although severe pruritus is considered a major symptom and many patients exhibit widespread scratching and rubbing.
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PMID:Pediatric median neuropathy due to pruritus in Alagille syndrome. 1693 64

Although advances in the management of children with congenital cholestasis have enabled many to survive into adulthood with their native livers, even the most common of these conditions remains rare in adult hepatology practice. Among four congenital cholestatic syndromes (biliary atresia, Alagille syndrome, Caroli disease and congenital hepatic fibrosis, and progressive familial intrahepatic cholestasis), the published data on outcomes of the syndromes into adulthood suggest that a spectrum of severity of liver disease can be expected, from cirrhosis (almost universal in adults with biliary atresia who have not required liver transplantation) to mild and subclinical (eg, in the previously undiagnosed affected parent of an infant with Alagille syndrome). Complications associated with portal hypertension and nutritional deficiencies are common, and other associated features of the cholestatic syndrome may require appropriate attention, such as congenital heart disease in Alagille syndrome. Indications for liver transplantation include synthetic failure, progressive encephalopathy, intractable pruritus, recurrent biliary sepsis and recurrent complications of portal hypertension. Improved understanding of biliary physiology will hopefully translate into improved therapy for children and adults with cholestasis.
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PMID:Congenital cholestatic syndromes: what happens when children grow up? 1802 79

A 4-year-old girl with failure to thrive and intense pruritus associated with Alagille syndrome is described. The clinical features of this autosomal dominant disorder are reviewed. This case highlights the importance of recognizing the severe pruritus as a manifestation of the disease.
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PMID:Intense pruritus and failure to thrive in Alagille syndrome. 1819 20

Alagille syndrome is a multisystem disorder in which progressive liver disease with persistent cholestasis and dramatic pruritus often warrant consideration for liver transplantation. The most important part of the transplant assessment is evaluation of the cardiac and renal involvement. Preoperatively, cardiac performance often must be tested with dynamic stress tests, mimicking hemodynamic changes during liver transplant. Many aspects of the syndrome including cholestasis, pruritus, and hypercholesterolemia improve posttransplant, but short stature is rarely significantly affected. One- and 5-year patient and graft survival after liver transplant is comparable to other elective indications, but effects of long-term immunosuppressants on evolution of other components of the syndrome, including vascular, bone, and renal disease, remain largely unknown.
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PMID:Alagille syndrome and liver transplantation. 1994 48

A 34-year-old multiparous woman with a breech presentation, intrauterine growth restriction and premature rupture of membranes was transferred to our referral unit at 33 weeks of gestation. She was diagnosed with Alagille syndrome soon after birth because of cholestasis and pruritus. Her condition was later complicated by esophageal varices, treated with propranolol, thrombocytopenia, and insulin-dependent diabetes. She had characteristic facies, posterior embryotoxon, "butterfly" vertebrae but had no cardiac or renal abnormalities. Due to the early onset of spontaneous labor, emergency cesarean section under general anesthesia was performed 48 h after admission. This is the first case describing anesthetic care during delivery in a patient with Alagille syndrome. We discuss the anesthetic implications of the syndrome, emphasizing problems associated with portal hypertension and cholestasis, thrombocytopenia and cardiac abnormalities such as pulmonary artery stenosis.
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PMID:Alagille syndrome and pregnancy: anesthetic management for cesarean section. 2192 70

Alagille syndrome is an embryofoetopathy, due to mutations in the gene JAG1. It is autosomic dominant with variable expressivity, or sporadic. Neonatal cholestasis is a main feature, due to the paucity of intrahepatic bile ducts. It can rarely develop into cirrhosis, but be responsible for a disabling pruritus and xanthomas. The other features are a peculiar facies, cardiac abnormalities, butterfly vertebrae, and ocular embryotoxon. The prognosis depends on the severity of the liver and heart diseases. Hepatocarcinoma has been reported.
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PMID:Alagille syndrome: an overview. 2252 Nov 20

This is a case report of the first patient with Alagille syndrome (AGS) to undergo a partial internal biliary diversion (PIBD) for the treatment of symptoms refractory to medical therapy. Alagille syndrome is a hereditary disease resulting in chronic cholestasis and hypercholesterolemia that can lead to severe and intractable pruritus and disfiguring and debilitating xanthomas. PIBD has proven to be an effective treatment option for other causes of cholestatic liver disease. This report reviews the immediate and 2-year follow-up of a patient after this surgical procedure. The results suggest that PIBD has potential to provide relief of intractable symptoms and improve the quality of life in patients with AGS while avoiding an external stoma. It does not, however, appear to prevent the progression of liver disease. Long-term follow-up is still needed.
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PMID:Partial internal biliary diversion for Alagille syndrome: case report and review of the literature. 2281 14

Alagille syndrome (AS) is a multisystemic disease autosomal dominant, with variable expression. The major clinical manifestations are: chronic cholestasis, congenital heart disease, posterior embryotoxon in the eye, characteristic facial phenotype, and butterfy vertebrae. AS is caused by mutations in JAGGED1 (more than 90%) and in NOTCH2. Differential diagnosis include: infections, genetic-metabolic diseases, biliary atresia, idiopathic cholestasis. Cholestasis, pruritus and xanthomas have been successfully treated with choleretic agents (ursodeoxycholic acid) and other medications (cholestyramine, rifampin, naltrexone). In certain cases, partial external biliary diversion has also proved successful. Liver transplantation is indicated in children with cirrhosis and liver failure.
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PMID:[Alagille syndrome]. 2322 9

Alagille syndrome is associated with various ocular abnormalities, including pseudopapilledema or optic disk edema due to increased intracranial pressure. Several mechanisms have been proposed to explain the mechanism of intracranial hypertension in Alagille syndrome. Craniosynostosis is an unusual but significant cause of increased intracranial hypertension in Alagille syndrome. It has recently been demonstrated in animal models that Jagged1 gene in which mutations are responsible for Alagille syndrome may also take part in cranial suture formation. We report a child with Alagille syndrome and craniosynostosis who presented with pruritus, elevated liver enzymes, and suspected increased intracranial pressure.
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PMID:The association of Alagille syndrome and craniosynostosis. 2333 10


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