Perinatal-lethal Gaucher disease presenting as hydrops fetalis

Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis. Less common signs of the disease are hepatosplenomegaly, ichthyosis a...

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Autores principales: BenHamida, Emira, Ayadi, Imene, Ouertani, Ines, Chammem, Maroua, Bezzine, Ahlem, BenTmime, Riadh, Attia, Leila, Mrad, Ridha, Marrakchi, Zahra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4546719/
https://www.ncbi.nlm.nih.gov/pubmed/26327947
http://dx.doi.org/10.11604/pamj.2015.21.110.7052
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author BenHamida, Emira
Ayadi, Imene
Ouertani, Ines
Chammem, Maroua
Bezzine, Ahlem
BenTmime, Riadh
Attia, Leila
Mrad, Ridha
Marrakchi, Zahra
author_facet BenHamida, Emira
Ayadi, Imene
Ouertani, Ines
Chammem, Maroua
Bezzine, Ahlem
BenTmime, Riadh
Attia, Leila
Mrad, Ridha
Marrakchi, Zahra
author_sort BenHamida, Emira
collection PubMed
description Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis. Less common signs of the disease are hepatosplenomegaly, ichthyosis and arthrogryposis. We report a case of Gaucher's disease (type 2) diagnosed in a newborn who presented with Hydrops Fetalis.
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spelling pubmed-45467192015-08-31 Perinatal-lethal Gaucher disease presenting as hydrops fetalis BenHamida, Emira Ayadi, Imene Ouertani, Ines Chammem, Maroua Bezzine, Ahlem BenTmime, Riadh Attia, Leila Mrad, Ridha Marrakchi, Zahra Pan Afr Med J Case Report Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis. Less common signs of the disease are hepatosplenomegaly, ichthyosis and arthrogryposis. We report a case of Gaucher's disease (type 2) diagnosed in a newborn who presented with Hydrops Fetalis. The African Field Epidemiology Network 2015-06-10 /pmc/articles/PMC4546719/ /pubmed/26327947 http://dx.doi.org/10.11604/pamj.2015.21.110.7052 Text en © Emira Ben Hamida et al. http://creativecommons.org/licenses/by/2.0/ The Pan African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of 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
BenHamida, Emira
Ayadi, Imene
Ouertani, Ines
Chammem, Maroua
Bezzine, Ahlem
BenTmime, Riadh
Attia, Leila
Mrad, Ridha
Marrakchi, Zahra
Perinatal-lethal Gaucher disease presenting as hydrops fetalis
title Perinatal-lethal Gaucher disease presenting as hydrops fetalis
title_full Perinatal-lethal Gaucher disease presenting as hydrops fetalis
title_fullStr Perinatal-lethal Gaucher disease presenting as hydrops fetalis
title_full_unstemmed Perinatal-lethal Gaucher disease presenting as hydrops fetalis
title_short Perinatal-lethal Gaucher disease presenting as hydrops fetalis
title_sort perinatal-lethal gaucher disease presenting as hydrops fetalis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4546719/
https://www.ncbi.nlm.nih.gov/pubmed/26327947
http://dx.doi.org/10.11604/pamj.2015.21.110.7052
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