A Case of Lipoid Congenital Adrenal Hyperplasia Presenting with Cholestasis

BACKGROUND: Lipoid congenital adrenal hyperplasia, is the rarest and usually the most severe form of adrenal steroidogenic defect,which may presents as infantile cholestasis. CASE PRESENTATION: Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vom...

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Autores principales: Khodadad, Ahmad, Modaresi, Vajiheh, Kiani, Mohammad-Ali, Rabani, Ali, Pakseresht, Bahar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Tehran University of Medical Sciences 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446141/
https://www.ncbi.nlm.nih.gov/pubmed/23056846
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author Khodadad, Ahmad
Modaresi, Vajiheh
Kiani, Mohammad-Ali
Rabani, Ali
Pakseresht, Bahar
author_facet Khodadad, Ahmad
Modaresi, Vajiheh
Kiani, Mohammad-Ali
Rabani, Ali
Pakseresht, Bahar
author_sort Khodadad, Ahmad
collection PubMed
description BACKGROUND: Lipoid congenital adrenal hyperplasia, is the rarest and usually the most severe form of adrenal steroidogenic defect,which may presents as infantile cholestasis. CASE PRESENTATION: Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. CONCLUSION: Congenital adrenal hyperplasia as one of the causes of neonatal cholestasis should be kept in mind, whenever there are also electrolytes abnormalities.
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spelling pubmed-34461412012-10-09 A Case of Lipoid Congenital Adrenal Hyperplasia Presenting with Cholestasis Khodadad, Ahmad Modaresi, Vajiheh Kiani, Mohammad-Ali Rabani, Ali Pakseresht, Bahar Iran J Pediatr Case Report BACKGROUND: Lipoid congenital adrenal hyperplasia, is the rarest and usually the most severe form of adrenal steroidogenic defect,which may presents as infantile cholestasis. CASE PRESENTATION: Here we present a 45 days old infant who came to our attention with cholestasis and severe intractable vomiting and electrolyte disturbances. Evaluation resulted in diagnosis of congenital adrenal hyperplasia. Hydrocortisone and flodrocortisone improved the symptoms including jaundice and vomiting. Hyponatremia and hyperkalemia also resolved with above mentioned treatment. CONCLUSION: Congenital adrenal hyperplasia as one of the causes of neonatal cholestasis should be kept in mind, whenever there are also electrolytes abnormalities. Tehran University of Medical Sciences 2011-12 /pmc/articles/PMC3446141/ /pubmed/23056846 Text en © 2011 Iranian Journal of Pediatrics & Tehran University of Medical Sciences http://creativecommons.org/licenses/by-nc/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution NonCommercial 3.0 License (CC BY-NC 3.0), which allows users to read, copy, distribute and make derivative works for non-commercial purposes from the material, as long as the author of the original work is cited properly.
spellingShingle Case Report
Khodadad, Ahmad
Modaresi, Vajiheh
Kiani, Mohammad-Ali
Rabani, Ali
Pakseresht, Bahar
A Case of Lipoid Congenital Adrenal Hyperplasia Presenting with Cholestasis
title A Case of Lipoid Congenital Adrenal Hyperplasia Presenting with Cholestasis
title_full A Case of Lipoid Congenital Adrenal Hyperplasia Presenting with Cholestasis
title_fullStr A Case of Lipoid Congenital Adrenal Hyperplasia Presenting with Cholestasis
title_full_unstemmed A Case of Lipoid Congenital Adrenal Hyperplasia Presenting with Cholestasis
title_short A Case of Lipoid Congenital Adrenal Hyperplasia Presenting with Cholestasis
title_sort case of lipoid congenital adrenal hyperplasia presenting with cholestasis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446141/
https://www.ncbi.nlm.nih.gov/pubmed/23056846
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