Alagille syndrome

A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.

Jaundice

Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.


合計: 13

                       


（表示件数）
PMID (PMCID)
30046498
(6036836)
 OTHER
A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome.
Reyes-de la Rosa ADP, Varela-Fascinetto G, Garcia-Delgado C, Vazquez-Martinez ER, Valencia-Mayoral P, Cerbon M, Moran-Barroso VF.
Case Rep Genet. 2018;2018:1369413.
We report the case of a 2-year-old Mexican mestizo patient with Alagille syndrome, having exhibited jaundice and cholestatic syndrome as of three weeks of age.
29187043
 MALE Infant, Newborn
An Atypical Presentation of Alagille Syndrome.
Wu KY, Treece AL, Russo PA, Wen JW.
Pediatr Dev Pathol. 2018;21(1):79-83.
This case highlights that there may be both atypical clinical and pathologic findings in mutation-proven Alagille syndrome and that the diagnosis of Alagille syndrome should be considered in cases of ongoing bile duct damage in the setting of early-onset jaundice, cholestasis, hepatosplenomegaly, posterior embryotoxon in the eyes, and butterfly vertebrae.
29187043
 MALE Infant, Newborn
An Atypical Presentation of Alagille Syndrome.
Wu KY, Treece AL, Russo PA, Wen JW.
Pediatr Dev Pathol. 2018;21(1):79-83.
This case highlights that there may be both atypical clinical and pathologic findings in mutation-proven Alagille syndrome and that the diagnosis of Alagille syndrome should be considered in cases of ongoing bile duct damage in the setting of early-onset jaundice, cholestasis, hepatosplenomegaly, posterior embryotoxon in the eyes, and butterfly vertebrae.
26847548
 FEMALE Infant, Newborn
Neonatal Jaundice with Splenomegaly: Not a Common Pick.
Gotti G, Marseglia A, De Giacomo C, Iascone M, Sonzogni A, D'Antiga L.
Fetal Pediatr Pathol. 2016;35(2):108-11.
The most common conditions causing cholestatic jaundice in infants are biliary atresia, neonatal hepatitis, and Alagille syndrome.
26339425
 FEMALE Infant
JAGGED1 gene variations in Chinese twin sisters with Alagille syndrome.
Xie X, Lu Y, Wang X, Wu B, Yu H.
Int J Clin Exp Pathol. 2015;8(7):8506-11.
Twin sisters with jaundice visited our hospital and were diagnosed with Alagille syndrome.
20706826
 FEMALE
A Chinese girl molecularly diagnosed with Alagille syndrome.
Li FB, Chen J, Yu JD, Gao H, Qi M.
World J Pediatr. 2010;6(3):278-80.
A 28-month-old Chinese girl with congenital heart disease and jaundice was diagnosed with Alagille syndrome by liver biopsy showing a paucity of the intrahepatic bile ducts.
14982305
 MALE Infant, Newborn
Cardiac features in the presymptomatic period in a neonate with anomalous left coronary artery arising from the pulmonary trunk.
Bolt I, Spalinger J, Pfammatter JP.
Cardiol Young. 2003;13(6):579-81.
We describe a neonate presenting with a cholestatic jaundice due to Alagille syndrome.
11826362
 FEMALE Infant
Proliferation to paucity: evolution of bile duct abnormalities in a case of Alagille syndrome.
Deutsch GH, Sokol RJ, Stathos TH, Knisely AS.
Pediatr Dev Pathol. 2001;4(6):559-63.
We describe the biliary changes on serial liver biopsies in a patient who presented with jaundice and extrahepatic stigmata of Alagille syndrome.
10079350
 MALE Infant
Extrahepatic biliary atresia associated with trisomy 18.
Ikeda S, Sera Y, Yoshida M, Ohshiro H, Ueno M, Izaki T, Akizuki M, Hamamoto R, Uchino S.
Pediatr Surg Int. 1999;15(2):137-8.
A 1-month-old boy was suspected to have Alagille syndrome with obstructive jaundice, a systolic heart murmur, growth retardation, and a small, pointed chin.
1981431
 FEMALE
Alagille syndrome. A case report.
Nigale V, Trasi SS, Khopkar US, Wadhwa SL, Nadkarni NJ.
Acta Derm Venereol. 1990;70(6):521-3.
A diagnosis of Watson-Alagille Syndrome was made on the basis of characteristic facies, xanthomatosis and cholestatic jaundice.
2240136
 MIXED_SAMPLE Infant, Newborn
Ocular pathologic features of arteriohepatic dysplasia (Alagille's syndrome).
Johnson BL.
Am J Ophthalmol. 1990;110(5):504-12.
Arteriohepatic dysplasia (Alagille's syndrome), an autosomal dominant condition involving jaundice caused by a developmental scarcity of intrahepatic bile ducts, has characteristic cardiovascular, skeletal, facial, and ocular features that distinguish it from extrahepatic biliary atresia and an array of other neonatal intrahepatic cholestatic disorders.
3340432
 MIXED_SAMPLE Infant
Hepatobiliary scintigraphy in arteriohepatic dysplasia (Alagille's syndrome). A report of two cases.
Summerville DA, Marks M, Treves ST.
Pediatr Radiol. 1988;18(1):32-4.
Arteriohepatic dysplasia (Alagille's syndrome) is an uncommon entity characterized by typical facial features, pulmonary artery stenosis, and a liver disorder which presents during the neonatal period as progressive jaundice.
7254780
 MIXED_SAMPLE Adult
Anterior segment and retinal pigmentary abnormalities in arteriohepatic dysplasia.
Puklin JE, Riely CA, Simon RM, Cotlier E.
Ophthalmology. 1981;88(4):337-47.
Arteriohepatic dysplasia (AHD, Alagille's syndrome) is presumed to be one of the six known familial intrahepatic cholestatic syndromes, all of which present with neonatal jaundice or failure to thrive, or both.