Gaucher disease is the most common of the lysosomal storage disorders, with a continuum
of clinical features ranging from a perinatal lethal form to an asymptomatic form.
Perinatal lethal Gaucher disease (PLGD), also known as fetal Gaucher disease is a
distinct, severe form of type II Gaucher disease and typically presents as non- immune
hydrops fetalis, hepatosplenomegaly and ichthyosiform abnormalities in the fetal life.
We herein report a family with a spectrum of usual (i.e. hepatosplenomegaly) and unusual
(i.e. absence of hydrops and presence of significant intrauterine growth restriction)
features of PLGD with a genetic diagnosis of homozygous RecNciI mutation in the GBA gene.
Keywords
Hydrops - Fetal - Perinatal-lethal - IUGR - Recombinant allele - RecNciI - Non immune-hydrops
