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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Published in:The Pan African medical journal 2015-06, Vol.21 (110), p.110-110
Main Authors: BenHamida, Emira, Ayadi, Imene, Ouertani, Ines, Chammem, Maroua, Bezzine, Ahlem, BenTmime, Riadh, Attia, Leila, Mrad, Ridha, Marrakchi, Zahra
Format: Article
Language:English
Subjects:
Arthrogryposis - etiology
Case Report
Female
gaucher disease
Gaucher Disease - diagnosis
Gaucher Disease - physiopathology
Hepatomegaly - etiology
Humans
hydrops
Hydrops Fetalis - diagnosis
Hydrops Fetalis - etiology
Ichthyosis - etiology
Infant, Newborn
lysosomal storage disorder
perinatal form
Splenomegaly - etiology
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container_end_page 110
container_issue 110
container_start_page 110
container_title The Pan African medical journal
container_volume 21
creator BenHamida, Emira
Ayadi, Imene
Ouertani, Ines
Chammem, Maroua
Bezzine, Ahlem
BenTmime, Riadh
Attia, Leila
Mrad, Ridha
Marrakchi, Zahra
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.
doi_str_mv 10.11604/pamj.2015.21.110.7052
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source Publicly Available Content (ProQuest); PubMed Central
subjects Arthrogryposis - etiology
Case Report
Female
gaucher disease
Gaucher Disease - diagnosis
Gaucher Disease - physiopathology
Hepatomegaly - etiology
Humans
hydrops
Hydrops Fetalis - diagnosis
Hydrops Fetalis - etiology
Ichthyosis - etiology
Infant, Newborn
lysosomal storage disorder
perinatal form
Splenomegaly - etiology
title Perinatal-lethal Gaucher disease presenting as hydrops fetalis
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