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 and arthrogryposis. We report a case of Gaucher's disease (type 2) diagnosed in a newborn who presented with Hydrops Fetalis.
Neonatology Department, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.
Emira
E
BenHamida
Neonatology Department, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.
Imene
I
Ayadi
Genetic Department, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.
Ines
I
Ouertani
Neonatology Department, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.
Maroua
M
Chammem
Neonatology Department, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.
Ahlem
A
Bezzine
Gynecology Department, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.
Riadh
R
BenTmime
Gynecology Department, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.
Leila
L
Attia
Genetic Department, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.
Ridha
R
Mrad
Neonatology Department, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.
Zahra
Z
Marrakchi
D001176:Arthrogryposis / Q000209:etiology; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000503:physiopathology; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis / Q000209:etiology*; D007057:Ichthyosis / Q000209:etiology; D007231:Infant, Newborn; D013163:Splenomegaly / Q000209:etiology
Gaucher disease; hydrops; lysosomal storage disorder; perinatal form