A Rare Cause of Fatty Liver and Elevated Aminotransferase Levels: Chanarin-Dorfman Syndrome: A Case Report

Chanarin-Dorfman syndrome is a rare, inherited metabolic disorder of neutral lipid storage characterized by ichthyosis, lipid vacuoles in leukocytes, and involvement of several internal organs, mostly the liver. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been report...

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Autores principales: Ersoy, Özdal, Alkım, Canan, Onuk, Mehmet Derya, Demirsoy, Hüseyin, Argon, Dilek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE-Hindawi Access to Research 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170759/
https://www.ncbi.nlm.nih.gov/pubmed/21994851
http://dx.doi.org/10.4061/2011/341372
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author Ersoy, Özdal
Alkım, Canan
Onuk, Mehmet Derya
Demirsoy, Hüseyin
Argon, Dilek
author_facet Ersoy, Özdal
Alkım, Canan
Onuk, Mehmet Derya
Demirsoy, Hüseyin
Argon, Dilek
author_sort Ersoy, Özdal
collection PubMed
description Chanarin-Dorfman syndrome is a rare, inherited metabolic disorder of neutral lipid storage characterized by ichthyosis, lipid vacuoles in leukocytes, and involvement of several internal organs, mostly the liver. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported, and the majority were from Middle East countries. Here, we report a 20-year-old patient with ichthyosis from Turkey, diagnosed as Chanarin-Dorfman syndrome presented with asypmtomatic elevated transaminases and hepatosteatosis, and also briefly review the updated clinical implications and management of this rarely seen syndrome. Prompt diagnosis of this syndrome avoids further unnecessary investigations in patients with ichthyosis
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spelling pubmed-31707592011-10-12 A Rare Cause of Fatty Liver and Elevated Aminotransferase Levels: Chanarin-Dorfman Syndrome: A Case Report Ersoy, Özdal Alkım, Canan Onuk, Mehmet Derya Demirsoy, Hüseyin Argon, Dilek Int J Hepatol Case Report Chanarin-Dorfman syndrome is a rare, inherited metabolic disorder of neutral lipid storage characterized by ichthyosis, lipid vacuoles in leukocytes, and involvement of several internal organs, mostly the liver. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported, and the majority were from Middle East countries. Here, we report a 20-year-old patient with ichthyosis from Turkey, diagnosed as Chanarin-Dorfman syndrome presented with asypmtomatic elevated transaminases and hepatosteatosis, and also briefly review the updated clinical implications and management of this rarely seen syndrome. Prompt diagnosis of this syndrome avoids further unnecessary investigations in patients with ichthyosis SAGE-Hindawi Access to Research 2011 2011-01-20 /pmc/articles/PMC3170759/ /pubmed/21994851 http://dx.doi.org/10.4061/2011/341372 Text en Copyright © 2011 Özdal Ersoy et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Ersoy, Özdal
Alkım, Canan
Onuk, Mehmet Derya
Demirsoy, Hüseyin
Argon, Dilek
A Rare Cause of Fatty Liver and Elevated Aminotransferase Levels: Chanarin-Dorfman Syndrome: A Case Report
title A Rare Cause of Fatty Liver and Elevated Aminotransferase Levels: Chanarin-Dorfman Syndrome: A Case Report
title_full A Rare Cause of Fatty Liver and Elevated Aminotransferase Levels: Chanarin-Dorfman Syndrome: A Case Report
title_fullStr A Rare Cause of Fatty Liver and Elevated Aminotransferase Levels: Chanarin-Dorfman Syndrome: A Case Report
title_full_unstemmed A Rare Cause of Fatty Liver and Elevated Aminotransferase Levels: Chanarin-Dorfman Syndrome: A Case Report
title_short A Rare Cause of Fatty Liver and Elevated Aminotransferase Levels: Chanarin-Dorfman Syndrome: A Case Report
title_sort rare cause of fatty liver and elevated aminotransferase levels: chanarin-dorfman syndrome: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170759/
https://www.ncbi.nlm.nih.gov/pubmed/21994851
http://dx.doi.org/10.4061/2011/341372
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