Perinatal-lethal Gaucher disease presenting as hydrops fetalis

被引：6

作者：

BenHamida, Emira ^{[1
]}

Ayadi, Imene ^{[1
]}

Ouertani, Ines ^{[2
]}

Chammem, Maroua ^{[1
]}

Bezzine, Ahlem ^{[1
]}

BenTmime, Riadh ^{[3
]}

Attia, Leila ^{[3
]}

Mrad, Ridha ^{[2
]}

Marrakchi, Zahra ^{[1
]}

机构：

[1] Tunis El Manar Univ, Charles Nicolle Hosp, Neonatol Dept, Tunis, Tunisia

[2] Tunis El Manar Univ, Charles Nicolle Hosp, Genet Dept, Tunis, Tunisia

[3] Tunis El Manar Univ, Charles Nicolle Hosp, Gynecol Dept, Tunis, Tunisia

来源：

PAN AFRICAN MEDICAL JOURNAL | 2015年 / 21卷

关键词：

Gaucher disease; lysosomal storage disorder; perinatal form; hydrops;

D O I：

10.11604/pamj.2015.21.110.7052

中图分类号：

R1 [预防医学、卫生学];

学科分类号：

1004 ; 120402 ;

摘要：

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.

引用

页数：4

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