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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

Neonatal Gaucher Disease Presenting as Persistent Thrombocytopenia

Journal of Perinatology volume 25, pages 356–358 (2005)Cite this article

Abstract

Mutations in the β-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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Author information

Authors and Affiliations

  1. Division of Neonatology, Department of Pediatrics, Staten Island University Hospital, SUNY — Downstate Medical Center, Staten Island, NY, USA

    Philip Roth MD, PhD, Ruby Cooma MD & Shashi Sahdev MD

  2. Division of Pediatric Hematology, Department of Pediatrics, Staten Island University Hospital, SUNY — Downstate Medical Center, Staten Island, NY, USA

    Daniel Potaznik MD

  3. Department of Human Genetics, Institute for Basic Research in Developmental Disabilities, New York State Office of Mental Retardation and Developmental Disabilities, Staten Island, NY, USA

    Susan Sklower Brooks MD

Authors
  1. Philip Roth MD, PhD
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  2. Susan Sklower Brooks MD
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  3. Daniel Potaznik MD
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  4. Ruby Cooma MD
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  5. Shashi Sahdev MD
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Additional information

Current address of S.S.K.: Division of Genetics, Department of Pediatrics, UMDNJ/Robert Wood Johnson Medical School, New Brunswick, NJ, USA.

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Roth, P., Sklower Brooks, S., Potaznik, D. et al. Neonatal Gaucher Disease Presenting as Persistent Thrombocytopenia. J Perinatol 25, 356–358 (2005). https://doi.org/10.1038/sj.jp.7211262

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