A 49-year-old white woman who presented with multiple lytic bone lesions was found to have Gaucher-like storage cells in multiple bone marrow aspirates and a percutaneous bone marrow biopsy several months before the development of overt disseminated lymphoma. Open bone biopsies of three different sites at initial presentation revealed only necrotic debris and a nondiagnostic polymorphic infiltrate. Elevated leukocyte beta-glucocerebrosidase levels ruled out the diagnosis of classic Gaucher's disease. The ultrastructural characteristics of these storage cells were found to be identical to those of pseudo-Gaucher cells found in patients with chronic myelogenous leukemia and distinctly different from those previously reported in other non-Hodgkin's lymphoma or plasma cell dyscrasias. A possible pathogenetic mechanism is suggested.
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http://dx.doi.org/10.1093/ajcp/90.4.454 | DOI Listing |
Am J Hematol
January 2025
Dipartimento di Scienze Cliniche e di Comunità, Dipartimento di Eccellenza 2023-2027, University of Milan, Milan, Italy.
Blood Res
February 2024
Department of Hematology, All India Institute of Medical Sciences, Ansari Nagar East, New Delhi, 110049, India.
Br J Haematol
October 2023
Department of Haematology, Royal North Shore Hospital, St Leonards, Australia.
Br J Haematol
September 2023
Department of Hematology, Mubarak Al Kabeer Hospital, Kuwait.
Niemann-Pick disease (NPD) A/B is a lysosomal storage disease (LSD), caused by an autosomal recessive disorder that causes variation in sphingomyelin phosphodiesterase-1 (SMPD1). Systemic signs are cholestatic jaundice in the neonatal period or hepatosplenomegaly in infancy. The clinical course experienced by our patient did not correspond to the classic phenotypes.
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