Abstract
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.
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Mishra, R., Bijarnia-Mahay, S., Sharma, N. et al. Gaucher Disease in Fetus: The Usual and the Unusual Presentations in a Family. J. Fetal Med. 6, 147–150 (2019). https://doi.org/10.1007/s40556-019-00216-8
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DOI: https://doi.org/10.1007/s40556-019-00216-8