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.

Cirrhosis

A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.


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PMID (PMCID)
20108035
 FEMALE Adult
Management of large hepatocellular carcinoma in adult patients with Alagille syndrome: a case report and review of literature.
Tsai S, Gurakar A, Anders R, Lam-Himlin D, Boitnott J, Pawlik TM.
Dig Dis Sci. 2010;55(11):3052-8.
Biopsy of the contralateral liver demonstrated findings consistent with Alagille syndrome, but no underlying cirrhosis.
11283905
 MALE
Successful heterotopic segmental liver transplantation from a live donor to a patient with Alagille syndrome.
Haberal M, Arda IS, Karakayali H, Emiroglu R, Bilgin N, Arslan G, Coskun M, Boyacioglu S.
J Pediatr Surg. 2001;36(4):667-71.
It is unusual to see the clinical picture of hepatic failure resulting in cirrhosis and requiring transplantation, but liver transplantation is indicated in Alagille syndrome patients who have chronic cholestasis.
8708775
 MALE Child
Focal liver hyperplasia in Alagille syndrome: assessment with hepatoreceptor and hepatobiliary imaging.
Torizuka T, Tamaki N, Fujita T, Yonekura Y, Uemoto S, Tanaka K, Yamaoka Y, Konishi J.
J Nucl Med. 1996;37(8):1365-7.
A child with Alagille syndrome, characterized by intrahepatic bile duct paucity, developed severe liver cirrhosis and was referred for liver transplantation.
7652762
 MIXED_SAMPLE Infant
Liver transplantation in children with Alagille syndrome--a study of twelve cases.
Cardona J, Houssin D, Gauthier F, Devictor D, Losay J, Hadchouel M, Bernard O.
Transplantation. 1995;60(4):339-42.
Cholestasis associated with Alagille syndrome may, in a few cases, be extremely severe and result in major impairment in the quality of life during early childhood and end up in cirrhosis eventually.