Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Carpenter G, Knipe H, et al. Alagille syndrome. Reference article, Radiopaedia.org (Accessed on 28 Mar 2024) https://doi.org/10.53347/rID-9708
Alagille syndrome (also known as arteriohepatic dysplasia) is a congenital genetic multisystem disorder.
Infants typically present with symptoms relating to the liver where it is one of the most common causes of hereditary cholestasis.
Genetics
Alagille syndrome is inherited in an autosomal fashion with a mutation of the JAG1 (90%) and NOTCH2 (1-2%) genes, located on the short arm of chromosome 20. Microdeletion of 20p12 is seen in ~7.5% of patients 6.
The spectrum of disease in Alagille syndrome is diverse:
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hepatic
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renal
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ocular
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otic
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skeletal
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facial
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cardiovascular
History and etymology
Named after Daniel Alagille, a French pediatrician (1925-2005) who first described it 9.
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1. Lykavieris P, Hadchouel M, Chardot C et-al. Outcome of liver disease in children with Alagille syndrome: a study of 163 patients. Gut. 2001;49 (3): 431-5. Gut (link) - Free text at pubmed - Pubmed citation
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2. Quek SC, Tan L, Quek ST et-al. Abdominal coarctation and Alagille syndrome. Pediatrics. 2000;106 (1): E9. Pediatrics (full text) - Pubmed citation
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3. Anad F, Burn J, Matthews D et-al. Alagille syndrome and deletion of 20p. J. Med. Genet. 1990;27 (12): 729-37. J. Med. Genet. (link) - Free text at pubmed - Pubmed citation
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4. Unsinn KM, Freund MC, Ellemunter H et-al. Spectrum of imaging findings after pediatric liver transplantation: part 2, posttransplantation complications. AJR Am J Roentgenol. 2003;181 (4): 1139-44. AJR Am J Roentgenol (full text) - Pubmed citation
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5. Berrocal T, Gamo E, Navalón J et-al. Syndrome of Alagille: radiological and sonographic findings. A review of 37 cases. Eur Radiol. 1997;7 (1): 115-8. Pubmed citation
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6. Spinner NB, Leonard LD, Krantz ID. Alagille Syndrome. 2000 May 19 [Updated 2013 Feb 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1273/
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7. Koch B, Goold A, Egelhoff J, Benton C. Partial absence of the posterior semicircular canal in Alagille syndrome: CT findings. (2006) Pediatric radiology. 36 (9): 977-9. doi:10.1007/s00247-006-0230-2 - Pubmed
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8. Taeko Okuno, Haruo Takahashi, Yoshihiro Shibahara et-al. Temporal Bone Histopathologic Findings in Alagille's Syndrome. (1990) Archives of Otolaryngology–Head & Neck Surgery. 116 (2): 217. doi:10.1001/archotol.1990.01870020093025
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9. Landrieu P. [Daniel Alagille, pediatric hepatology and neurology]. (2006) Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 13 Spec No 1: 11-4. Pubmed
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