Alagille's Syndrome J. Reichen First described by Alagille in 1969, reported in the English literaturein 1975 (1). Synonyms arteriohepatic dysplasia, syndromatic ductopenia. http://www.ikp.unibe.ch/lab2/Alagille.htm
Extractions: Autosomal dominant disorder owing to mutations in the JAG1 gene on chromosome 20p12 (2;3). JAG1 codes for a NOTCH receptor ligand important in cell-cell interactions and in development. Different mutations have been described 70 % of which are sporadic (4). During embroygenesis JAG1 is expressed mainly in the cardiovascular system; in the liver it is associated with blood vessels. It is also expressed in other structures of mesenchymal origin suggesting that the variety of associated conditions are not chance associations (5). Clinical presentation, associated features: The classical syndrome consists of jaundice in early infancy, characteristic facies, pulmonary stenosis, butterfly vertebrae, growth and mental retardation and hypogonadism (1). In Emerick's series, 40 % had renal disease and stroke occurred in 14 % (6). The growth retardation is due to resistance to GH (7). Severe pruritus occurs in 45 % but can abate with age (6). Besides posterior embryotoxon a variety of other ocular anomalities have been described (8). Table 1 Frequency of main signs of Alagille's syndrome in the two largest series Alagille (9) (n= 80) Emerick (6) (n=92) Chronic cholestasis Characteristic facies Systolic murmur Butterfly vertebrae Posterior embryotoxon Other associated conditions include congenital mechanical obstruction of the small intestine (10), cystic renal disease (11), tubulo-interstitial nephropathy (12), exocrine pancreatic insufficiency (13), pancreas atrophy with diabetes mellitus (14), coproporphyrin abnormalities with photosensitivity (15).
Arteriohepatic Dysplasia one click For Medical Professionals only. arteriohepatic dysplasia,,Print this article, the constellation of intrahepatic bile http://www.amershamhealth.com/medcyclopaedia/Volume VII/arteriohepatic dysplasia
Extractions: *For Medical Professionals only, registration required Arteriohepatic dysplasia, the constellation of intrahepatic bile duct hypoplasia, abnormal facies, pulmonary arterial hypoplasia and segmentation anomalies of the spine. It is an idiopathic disorder characterised by cholestatic jaundice, hepatomegaly and often splenomegaly. There is a nonsyndromic form of intrahepatic bile duct hypoplasia without the extrahepatic features. The natural history is for progressive liver damage leading to death in the second or third decades. In the syndromic type (see Alagille syndrome ) vertebral body abnormalities, which include butterfly and hemivertebra are present characteristically in the thoracic spine. Hepatic sonography is usually normal though a gallbladder may not be visible. There is no intrahepatic bile duct dilatation. Hepatobiliary scintigraphy reveals similar findings to that in extrahepatic biliary atresia, i.e. normal or slightly impaired hepatic uptake and no evidence of excretion of tracer into bile ducts or bowel. Differentiation from extrahepatic biliary atresia requires liver biopsy and/or cholangiography. See
Alagille Syndrome and butterfly vertebrae. See arteriohepatic dysplasia. HC The Encyclopaediaof Medical Imaging Volume VII. Disclaimer Legal Contact http://www.amershamhealth.com/medcyclopaedia/Volume VII/ALAGILLE SYNDROME.asp
Extractions: *For Medical Professionals only, registration required Alagille syndrome, (Danielle Alagille, born 1925, French paediatrician), syndrome that typically presents with cholestatic jaundice in the neonatal period due to hypoplasia of the intralobular bile ducts. Associated abnormalities are facial dysmorphism, with a triangular face and low set ears, pulmonary stenosis and vertebral abnormalities and eye anomalies which include pigment clumping, chorioretinal atropy and posterior embryotoxon. Cytogenetic abnormalities are common. Butterfly vertebrae, or fused vertebrae are found on spinal radiographs. The liver echodensity may be increased at ultrasound examination but it is structurally normal. Radionuclide imaging shows slow bile excretion. The diagnosis is made by the demonstration of three of the five major manifestations: facial abnormalities, cholestasis, peripheral pulmonary artery stenosis or hypoplasia, posterior ocular embryotoxon and butterfly vertebrae. See
Harriet Lane Links 5. Alagille's Syndrome/arteriohepatic dysplasia Dermatologic Finding 5 http//tray.dermatology.uiowa.edu/Alagil05.htm0314-2000, Photograph of dermatologic http://derm.med.jhmi.edu/poi/search.cfm?PlasticSurgery=-1&SearchTitle=Plastic Su
Harriet Lane Links 16. Alagille's Syndrome/arteriohepatic dysplasia Dermatologic Finding 5 http//tray.dermatology.uiowa.edu/Alagil05.htm0314-2000, Photograph of dermatologic http://derm.med.jhmi.edu/poi/search.cfm?Dermatology=-1&SearchTitle=Dermatology
Alagille Syndrome arteriohepatic dysplasia OR ALAGILLE SYNDROME. Alagille Medicine. Alagille'sSyndrome/ arteriohepatic dysplasia Right elbow - Xanthomata. http://www.health-nexus.com/alagille_syndrome.htm
Extractions: Health-Nexus.Net Health-Nexus.Org The #1 Health information site 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 WebMD/Lycos - Article - Alagille Syndrome With Lycos, WebMD offers a comprehensive online health resource. Whether you want to get information about a medical condition, learn more about leading a healthier lifestyle, or talk to others...
Pharmacy Drug Index It is an anticholesterol drug used to reduce abnormally high bloodlevels of cholesterol and to treat arteriohepatic dysplasia. http://www.mythos.com/pharmacy/Index_DrugName.aspx?L=Q&P=1
Right Ventricular Outflow Tract Obstruction It may occur in tetralogy of Fallot, Williams syndrome, Noonan syndrome,VSD, arteriohepatic dysplasia or congenital Rubella syndrome. http://www.rbh.nthames.nhs.uk/Cardiology/Consensus/rightventricular.htm
Extractions: Introduction General Recommendations Atrial Septal Defect Ventricular Septal Defect ... Coarctation of the Aorta Right Ventricular Outflow Tract Obstruction Tetralogy of Fallot Ebstein Anomaly Marfan syndrom Complete Transposition of the Great Arteries ... Management of Cyanotic Patients Appendices Appendix I - Patients who should be seen at /National or Regional ACHD Centres ... Bibliography SECTION VII - RIGHT VENTRICULAR OUTFLOW TRACT OBSTRUCTION (RVOTO) Part I - Background Information Supravalvar RVOTO seldom occurs in isolation. It may occur in tetralogy of Fallot, Williams syndrome, Noonan syndrome, VSD, arteriohepatic dysplasia or congenital Rubella syndrome. Valvar RVOTO, the most common form of RVOTO, is almost always congenital in origin. Typically, the stenotic pulmonic valve is a thin, pliable, dome-shaped structure, with a narrow opening at its apex. In 10-15% of cases, the valve is dysplastic with thickened and immobile cusps. In adults, the valve may calcify late in life. Subvalvar (infundibular) RVOTO usually occurs in combination with other lesions, particularly ventricular septal defect, and as part of tetralogy of Fallot.
ADULT CONGENITAL HEART DISEASE GLOSSARY ACHD, Adult Congenital Heart Disease. Alagille syndrome, see arteriohepatic dysplasia.ALCAPA, Anomalous left coronary artery arising from the pulmonary artery. http://www.cachnet.org/achd_a.html
Extractions: aberrant innominate artery A rare abnormality associated with right aortic arch wherein the sequence of arteries arising from the aortic arch is: right carotid artery, right subclavian artery, then (left) innominate artery. The latter passes behind the esophagus. This is in contrast to the general rule that the first arch artery gives rise to the carotid artery contralateral to the side of the aortic arch (i.e.: right carotid artery in left aortic arch and left carotid artery in right aortic arch). syn . retro-esophageal innominate artery. aberrant subclavian artery The right subclavian artery arises from the aorta distal to the left subclavian artery. Left aortic arch with (retroesophageal) aberrant right subclavian artery is the most common aortic arch anomaly, first described 1735 by Hunauld, and occurring in 0.5% of the general population. absent pulmonary valve syndrome Pulmonary valvular tissue is absent, resulting in pulmonary regurgitation. This rare anomaly uncommonly may be isolated; or it may be associated with ventricular septal defect, obstructed pulmonary valve annulus and massive dilation and distortion of the pulmonary arteries. Absent pulmonary valve may also occur in association with other simple or complex congenital heart lesions.
Alagille Watson Syndrome Alternative titles; symbols ALAGILLE WATSON SYNDROME; AWS CHOLESTASIS WITH PERIPHERALPULMONARY STENOSIS arteriohepatic dysplasia; AHD SYNDROMATIC HEPATIC http://ibis-birthdefects.org/start/alagsyn.htm
Extractions: Syndrome Alagille syndrome (AGS) Synonyms Alagille-Watson syndrome (AWS) Watson-Miller syndrome arteriohepatic dysplasia (AHD) cardiovertebral syndrome cholestasis-peripheral pulmonary stenosis hepatic ductular hypoplasia hepatic ductular hypoplasia-multiple malformations syndrome hepatofacioneurocardiovertebral syndrome paucity of interlobular bile ducts (PILBD) Summary Intrahepatic cholestasis caused by paucity of interlobular bile ducts associated with cardiovascular and other anomalies. Major abnormalities include characteristic facies (prominent forehead, deeply set eyes, hypertelorism, straight nose, and pointed chin) sometimes referred to as cholestasis facies, hoarse voice, and a wide variety of other disorders. Moderate mental retardation occurs in about 15 %. Cerebrovascular complications may include the moyamoya syndrome (progressive obliteration of the intracranial carotid arteries and formation of an extensive vascular network of dilated small branches. The disorder was first reported in Japanese children, and the angiographic appearance of thus formed fine network was described by the Japanese expression "moyamoya," meaning "something hazy, like a puff of smoke drifting in the air," as seen on the radiograph). Major Features Head and neck: Prominent forehead, dysmorphic flat midface, prognathism, and pointed chin.
Daniel Alagille (www.whonamedit.com) M. Gautier, M. Odièvre, JP Dommergues Syndromic paucity of interlobular bileducts (Alagille syndrome or arteriohepatic dysplasia) review of 80 cases. http://www.whonamedit.com/doctor.cfm/153.html
Extractions: Daniel Alagille in 1954 graduated from the University of Paris, where he also obtained a diploma in biochemistry. From 1954 to 1964 he worked in the Hôpial Saint-Vincent-de Paul and was appointed associate professor in 1963. He as elevated to full professor of paediatrics and clinical genetics at the Université Paris-Sud in 1971, also being staff physician and chairman of the department of paediatrics, Hôpital de Bicêtre, where he founded a paediatric liver unit. From 1964 he was chief of the paediatric liver research unit of the Institut National de la Santé et de la Recherche. He remained with the Hôpital de Bicêtre until his retirement in 1990. Alagille was chief editor of the Revue internationale d'hépatologie (1954-1971) and Archives françaises de pédiatrie (1964-1990). He has published more than 500 articles and several books. He became Chevalier de l'Ordre National du Mérite in 1967 and Chevalier de la Légion d'Honneur in 1988. By 1996 he was professor emeritus at the Université Paris-Sud in Bicêtre.
International Society For Adult Congenital Cardiac Disease ACHD Adult Congenital Heart Disease Alagille syndrome see arteriohepatic dysplasiaALCAPA Anomalous left coronary artery arising from the pulmonary artery. http://www.isaccd.org/profres/a.php
Extractions: Dylan Taylor MD, FRCPC, FACC Job Board: Search Post Mar 30, 2003 A rare abnormality associated with right aortic arch wherein the sequence of arteries arising from the aortic arch is: right carotid artery, right subclavian artery, then (left) innominate artery. The latter passes behind the esophagus. This is in contrast to the general rule that the first arch artery gives rise to the carotid artery contralateral to the side of the aortic arch (i.e.: right carotid artery in left aortic arch and left carotid artery in right aortic arch).
Dorlands Medical Dictionary tachycardia arising in the right ventricle. arteriohepatic dysplasia,Alagille syndrome. bronchopulmonary dysplasia, a chronic lung http://www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspzQzpgzEzzSzppdocszSzuszS
Radiology Cases In Pediatric Emergency Medicine Subject Index V3C18, V3C19, V4C10, V6C18 appendicolith V3C18, V4C10, V6C18 appendicolith seriesV6C18 Apt test V2C14 arteriohepatic dysplasia V6C5 arthrocentesis ankle http://www.hawaii.edu/medicine/pediatrics/pemxray/zindex.html
Extractions: Return to the Radiology Cases In Pediatric Emergency Medicine Home Page Vol 1 - Vol 6 Index A abdominal abscess: abdominal distention: abdominal pain appendicitis: see also: appendicitis bowel obstruction - see bowel obstruction cholecystitis: imperforate hymen: intussusception: see also intussusception Meckel's diverticulitis: non-specific: leukemia: pneumonia: psoas abscess: spinal fracture: volvulus - see volvulus abdominal radiographs, series, test your skill: abscess: abdominal - see abdominal abscess prevertebral - see retropharyngeal abscess psoas - see psoas abscess retropharyngeal - see retropharyngeal abscess absent liver edge sign of intussusception: acetabular fracture: Achille's tendonitis - see Sever's disease acquired immunodeficiency syndrome - see HIV acromioclavicular (AC) injury: AIDS - see HIV airway obstruction: Alagille's syndrome: aneurysmal bone cyst: angiography: aortography - see aortogram cerebral: magnetic resonance: ankle sprain: ankle fracture: ankle radiographs, series, test your skill:
