Imaging Findings in Alagille Syndrome - A Case Report with literature review

Authors

Poonam Sherwani Department of Radiology, All India Institute of Medical Sciences (AIIMS), Rishikesh, India
Pankaj Sah Department of Radiology, All India Institute of Medical Sciences (AIIMS), Rishikesh, India
Akhil Raj MS Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Rishikesh, India
Indar sherawat Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), Rishikesh, India

DOI:

Keywords:

Alagille syndrome, Bile ducts, Cholestasis, facies, Magnetic Resonance Imaging,

Abstract

Alagille syndrome (AGS)is a rare disease with autosomal dominant inheritance and involves mutation of JAG 1(90%) and NOTCH 2(1-2%). The syndrome affects multiple systems, including the liver, eye, Vertebra, and cardiac, and has peculiar facial features. To diagnose AGS, three out of 5 clinical features or systems should be involved. Here we describe the imaging findings in a 13-year-old child who presented with tubercular spondylitis and cholestatic jaundice and had typical facies.

16-year-old male with Alagille syndrome.

Downloads

Published

2024-11-30

Issue

Vol. 18 No. 11 (2024)

Section

Gastrointestinal Radiology

License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

The publisher holds the copyright to the published articles and contents. However, the articles in this journal are open-access articles distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 License, which permits reproduction and distribution, provided the original work is properly cited. The publisher and author have the right to use the text, images and other multimedia contents from the submitted work for further usage in affiliated programs. Commercial use and derivative works are not permitted, unless explicitly allowed by the publisher.