ALAGILLE SYNDROME CASE REPORTS PEDIATRIC ONCALL Key words arteriohepatic dysplasia , chronic cholestasis, Patient wasclinically diagnosed as a case of arteriohepatic dysplasia or Alagille syndrome. http://www.pediatriconcall.com/fordoctor/casereports/alagille_syndrome.asp
Extractions: M.D, DCH(Gold Medalist), FCPS, DNB Key words:- Arteriohepatic dysplasia , chronic cholestasis, pulmonary artery hypoplasia Introduction: Case :- 18 month old male child BONCM to normal parents presented with jaundice since 2 months of age, clay colored stools with high colored urine, and pruritis since l year. Patient was noticed to have cyanosis, which increased, on crying. He had dysmorphic features in form of deep-seated eyes, with prominent forehead and small pointed chin. Patient had hepatomegaly with 5cm palpable liver. He also had an ejection systolic murmur with soft and single second heart sound suggestive of tetralogy of fallot physiology. Patient was clinically diagnosed as a case of Arteriohepatic dysplasia or Alagille syndrome . 2 D echo showed subvalvalar pulmonary stenosis with left pulmonary artery not seen. USG Abdomen was suggestive of gall bladder sludge with hepatomegaly. His liver enzymes were elevated. There was hyperbilirubinemia with increased direct compound (2.4mg% D= 1.2 mg%). Serum cholesterol (316 mg%) and Triglyceride (352 mg%) were markedly elevated. Liver scan (HIDA) showed decreased excretion. Patient was advised cardiac catheterisation to assess the anatomical malformation and evaluate further treatment. Liver biopsy was not undertaken in this patient. He was treated with fat soluble vitamins, cholestyramine, ureodeoxycholic acid. His pruritis markedly subsided with above management. He was started on T. Propranalol for his cyanotic heart disease and discharged. He was advised surgery for heart disease and option for liver transplantation was explained.
Alagille Syndrome arteriohepatic dysplasia. AWS. Bile ducts paucity, syndromic form Alagille sSyndrome / arteriohepatic dysplasia Xanthomata Alagille s Syndrome http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=15
JN 2005; Vol.18 N.3: 312-317 Alagille syndrome (arteriohepatic dysplasia, OMIM 118450) is an autosomal arteriohepatic dysplasia (Alagille syndrome) extreme variability among http://www.sin-italy.org/jnonline/Vol18n3/312.html
Extractions: Alagille syndrome (arteriohepatic dysplasia, OMIM #118450) is an autosomal dominant multi-organ disorder with variable penetrance. It involves primarily liver, heart, eyes, face, and skeleton. Main phenotypical features are chronic cholestasis caused by paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, posterior embryotoxon, vertebral defects, and a typical face characterized by a triangular shape with prominent forehead, broad nasal bridge and pointed chin (1, 2). Less frequently occurring symptoms are growth retardation, delayed puberty and high-pitched voice, pancreatic insufficiency, mental retardation, neurovascular accidents, and
CHAPTER 6 REFERENCES General Aspects 1. Alagille D, Odièvre M Riely CA, Cotlier E, Jensen PS, Klatskin G arteriohepatic dysplasia A benign Shulman SA, Hyams JS, Gunta R, et al arteriohepatic dysplasia (Alagille http://tpis.upmc.edu/tpis/dlp/CHAP6REF.htm
DBGET Result: OMIM 118450 The possibility of a gene for arteriohepatic dysplasia at this site on chromosome 20 In an 8year-old boy with arteriohepatic dysplasia, Zhang et al. http://www.genome.jp/dbget-bin/www_bget?omim 118450
Penn State Faculty Research Expertise Database (FRED) arteriohepatic dysplasia, Dysplasia, Arteriohepatic. AlagilleWatson Syndrome,Cholestasis with Peripheral Pulmonary Stenosis http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D016738
PSU Vol 12, 1999 3 Kahn E, Daum F arteriohepatic dysplasia (Alagille s syndrome) a common causeof conjugated hyperbilirubinemia. Ann Clin Lab Sci 14(6)480-6, 1984 http://home.coqui.net/titolugo/PSU12.htm
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Gastroenterology Last Updated: June 27, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: AS, Alagille's syndrome, Alagille-Watson syndrome, arteriohepatic dysplasia, syndromic bile duct paucity AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Ann Scheimann, MD , Assistant Professor, Department of Pediatrics, Section of Nutrition and Gastroenterology, Baylor College of Medicine and Johns Hopkins Medical Institution Ann Scheimann, MD, is a member of the following medical societies: North American Society for Pediatric Gastroenterology and Nutrition Editor(s): Robert Baldassano, MD , Director, Center for Pediatric Inflammatory Bowel Disease, Associate Professor, Department of Pediatrics, Division of Gastroenterology and Nutrition, The Children's Hospital of Philadelphia, University of Pennsylvania; Robert Konop, PharmD
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: AS, Alagille's syndrome, Alagille-Watson syndrome, arteriohepatic dysplasia, syndromic bile duct paucity Background: Alagille syndrome (AS) is an autosomal dominant disorder (OMIM 118450) associated with abnormalities of the liver, heart, skeleton, eye, kidneys, and characteristic facial appearance. In 1973, Watson and Miller reported 9 cases of neonatal liver disease with familial pulmonary valvular stenosis. Then in 1975, Alagille et al described several patients with hypoplasia of the hepatic ducts with associated features. Pathophysiology: AS is an autosomal dominant disorder with variable expression. Associated abnormalities include those of the liver, heart, eye, skeleton, kidneys, and characteristic facial features. Mild-to-moderate mental retardation also may be present. The syndrome recently has been mapped to the 20p12-jagged-1 locus ( ), encoding a ligand critical to the notch gene signaling cascade importance in fetal development. A minority (6-7%) of patients have complete deletion of the jagged-1 gene, and approximately 15-50% of mutations arise spontaneously. Frequency:
Alagille Syndrome arteriohepatic dysplasia OR ALAGILLE SYNDROME. Alagille first described a Alagille sSyndrome / arteriohepatic dysplasia Right elbow - Xanthomata. http://www.health-nexus.com/alagille_syndrome.htm
Extractions: The #1 Health information site Health-Nexus.Net Health-Nexus.Org Home ... Up Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Alagille Syndrome Alagille's Syndrome Dept. of Dermatology - University of Iowa College of Medicine. Alagille'sSyndrome / Arteriohepatic Dysplasia - Right elbow - Xanthomata. ...
Extractions: @import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Article Nature Genetics doi:10.1038/ng0797-235 Takaya Oda , Abdel G. Elkahloun , Brian L. Pike , Kazuki Okajima , Ian D. Krantz , Anna Genin , David A. Piccoli , Paul S. Meltzer , Nancy B. Spinner , Francis S. Collins Laboratory of Gene Transfer, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4442, USA. Laboratory of Cancer Genetics, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4442, USA. Department of Pediatrics, Nagoya City University, Medical School, Nagoya 467, Japan. Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104-4399, USA. Research Genetics Inc., Huntsville, Alabama 35801, USA.
Extractions: Abstract References (6) View full size inline images Transplantation Volume 67(3) 15 February 1999 pp 416-418 Gurkan, Alihan ; Emre, Sukru ; Fishbein, Thomas M. ; Brady, Linda ; Millis, Michael ; Birnbaum, Audrey ; Kim-Schluger, Leona ; Sheiner, Patricia A. Recanati/Miller Transplantation Institute, Mount Sinai Medical Center, New York, New York 10029; and the Departments of Pediatrics and Surgery, University of Chicago Children's Hospital, Chicago, Illinois 60637 Recanati/Miller Transplantation Institute, The Mount Sinai Medical Center. Department of Pediatrics, University of Chicago Children's Hospital. Department of Surgery, University of Chicago Children's Hospital. Address correspondence to: Patricia A. Sheiner, M.D., The Mount Sinai Medical Center, Box 1104, One Gustave L. Levy Place, New York, NY 10029. E-mail: patricia_sheiner@smtplink.mssm.edu. Received 2 June 1998.
Transplantation - UserLogin Longterm complications of arteriohepatic dysplasia. Am J Med 1992; 93 171-175 . arteriohepatic dysplasia in infancy and childhood a longitudinal study http://www.transplantjournal.com/pt/re/transplantation/fulltext.00007890-2003062
Current Opinion In Pediatrics - UserLogin Watson GH, Miller V arteriohepatic dysplasia. Familial pulmonary arterial stenosiswith neonatal liver disease. Arch Dis Child 1973, 48459466. http://www.co-pediatrics.com/pt/re/copeds/fulltext.00008480-199912000-00015.htm
Karger Publishers with the main signs of arteriohepatic dysplasia (AlagilleWatson Syndrome, (Alagille syndrome or arteriohepatic dysplasia) review of 80 cases. http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=
Extractions: Kamath, B. M. Krantz, I. D. Download to Citation Manager Circulation. Binita M. Kamath, MBBChir Nancy B. Spinner, PhD Karan M. Emerick, MD Albert E. Chudley, MD Carol Booth, MD David A. Piccoli, MD and Ian D. Krantz, MD Received October 7, 2003; revision received December 10, 2003; accepted January 5, 2004. Alagille syndrome (AGS) is a dominantly inherited multisystem disorder involving the liver, heart, eyes, face, and skeleton, caused by mutations in . Intracranial bleeding is a recognized complication and cause of mortality in AGS. There are multiple case reports of intracranial vessel abnormalities and other vascular anomalies in AGS. The objective of this study was to characterize the nature and spectrum of vascular anomalies in AGS.
Disclaimer - Electronic Collection Riely CA, Cotlier E, Jensen PS, Klatskin G. arteriohepatic dysplasia a benign Tubulointerstitial nephropathy associated with arteriohepatic dysplasia. http://collection.nlc-bnc.ca/100/201/300/cdn_medical_association/cim/vol-19/0325
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