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Published:
Apr 12, 2016Keywords:
Gaucher disease lysosomal storage disorder perinatal form hydrops
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Perinatal-lethal Gaucher disease presenting as hydrops fetalis
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.
