Atypical Alagille Syndrome Diagnosed by Genomic Analysis

Zhen Zhen Zhang, Kun Zhu, QuanBo Liu and HongMei Xu

Department of Infectious Disease, Children’s Hospital of Chongqing Medical University, China
Department of Radiology, Children’s Hospital of Chongqing Medical University, China
Authors contributed equally to this paper

^*Correspondance to: HongMei Xu 

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Abstract:

Alagille Syndrome (ALGS) is an autosomal dominant disease presented by multi-system disorder including liver, heart, eyes, vertebrae, and face. Traditionally, the diagnosis of ALGS is based on a combination of liver biopsy with at least three of the major clinical features. However, this may cause misdiagnosis of atypical or mild ALGS. Here we reported a 12-year-old boy with chief complaint about recurrent mild transaminase elevation and hepatosplenomegaly over 11 years. There were no jaundice and other system disorders. He also had liver biopsy which didn’t present paucity of intrahepatic bile duct. The genome testing demonstrated a heterozygous mutation on exon12 of JAG1 gene. The boy was finally diagnosed as ALGS and treated by ursodeoxycholic acid as well as fat-soluble vitamins. For patients with chronic and progressive liver damage, ALGS should be taken into consideration. Molecular diagnosis is particularly useful for patients with atypical or mild Alagille syndrome who do not meet classic diagnostic criteria.

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Cite the Article:

Zhang ZZ, Zhu K, Liu Q, Xu H. Atypical Alagille Syndrome Diagnosed by Genomic Analysis. Ann Clin Case Rep. 2017; 2: 1377.