Perinatal-lethal Gaucher disease presenting as hydrops fetalis.
Pan Afr Med J
; 21: 110, 2015.
Article
em En
| MEDLINE
| ID: mdl-26327947
ABSTRACT
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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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Hidropisia Fetal
/
Doença de Gaucher
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article