Folia Histochemica et Cytobiologica (Jul 2011)

Gaucher disease diagnosed after bone marrow trephine biopsy — a report of two cases

  • Anna Dmoszyńska,
  • Tomasz Gromek,
  • Anna Tylki-Szymańska,
  • Waldemar Tomczak,
  • Barbara Czartoryska,
  • Danuta Skomra,
  • Bożena Sokołowska

DOI
https://doi.org/10.5603/4134
Journal volume & issue
Vol. 49, no. 2
pp. 352 – 356

Abstract

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The hematologist is at the forefront of specialists to whom patients with Gaucher disease present because of cytopenia and hepatosplenomegaly. Usually, patients with such symptoms have undergone trephine biopsy. We present the cases of two patients in whom Gaucher disease was suspected because of the discovery of Gaucher cells in trephine biopsy, and subsequently confirmed via enzymatic and molecular investigations. (Folia Histochemica et Cytobiologica 2011; Vol. 49, No. 2, pp. 352–356)

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