True Gaucher's Disease or Pseudo-Gaucher Presentations.

Source: PubMed, NCBI / U.S. National Library of Medicine

A 24-year-old male with α-thalassemia was found to have extensive sheets of pseudo-Gaucher histiocytes on bone marrow examination, mimicking true Gaucher disease. The diagnosis was excluded by normal enzyme activity. This case highlights a rare, prominent histiocytic proliferation in thalassemia and underscores the necessity for comprehensive evaluation to differentiate reactive processes from true storage disorders.