Gaucher Disease in Fetus: The Usual and the Unusual Presentations in a Family
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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.
KeywordsHydrops Fetal Perinatal-lethal IUGR Recombinant allele RecNciI Non immune-hydrops
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Conflict of interest
All the authors declare that they have no conflict of interest.
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the 1975 Declaration of Helsinki, as received in 2008.
Patients’ informed consents were obtained.
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