Neonatal Gaucher disease presenting as persistent thrombocytopenia. |
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| Authors: | Philip Roth Susan Sklower Brooks Daniel Potaznik Ruby Cooma Shashi Sahdev |
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| Institution: | Division of Neonatology, Department of Pediatrics, Staten Island University Hospital, SUNY - Downstate Medical Center, Staten Island, NY 10305, USA. |
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| Abstract: | Mutations in the beta-glucocerebrosidase gene cause Gaucher disease with the type 1 variant generally presenting later in life with mild disease and type 2 in infancy with severe neuronopathic symptoms. We describe a neonate homozygous for the D409 H mutation with thrombocytopenia, splenomegaly and cholestasis at birth as the major features. |
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