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CC BY-NC-ND 4.0 · Journal of Gastrointestinal and Abdominal Radiology 2020; 3(S 01): S58-S64
DOI: 10.1055/s-0040-1708024
Case Report

Hereditary Tyrosinemia Type 1—A Rare Disease with Typical Radiological Features: Case Report and Review of Literature

Authors

  • Somesh Singh

    1   Department of Radiodiagnosis, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

  • Rana Vishwadeep Mall

    1   Department of Radiodiagnosis, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

  • Pragya Chaturvedi

    1   Department of Radiodiagnosis, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

  • Rajnikant R. Yadav

    1   Department of Radiodiagnosis, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
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Abstract

Hereditary tyrosinemia type 1 is one of the many inborn errors of metabolism associated with tyrosine catabolism. It is a rare disease with its incidence or prevalence in India unknown. The cascading alternate metabolism results in characteristic injury patterns to the liver, kidneys, and the central nervous system, with resultant classical radiological findings. Identifying this constellation of imaging features by a radiologist may help in arriving at a diagnosis and help referring physicians in performing appropriate biochemical tests and instituting early treatment. These usually present with chronic liver failure and are extensively evaluated for other causes of liver failure. We present a case type 1 hereditary tyrosinemia with characteristic radiological features and highlight its pathophysiology to understand the basis of these imaging findings.

Keywords

hepatocellular carcinoma - hereditary tyrosinemia type 1 - imaging - succinylacetoacetate


Publication History

Article published online:
18 May 2020

© 2020. Indian Society of Gastrointestinal and Abdominal Radiology. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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