Abstract
We present here an unusual case in which 3 distinct, apparently unrelated clinical entities were diagnosed in a pediatric patient. A 6-year-old female, previously diagnosed with neurofibromatosis type 1, presented with a mediastinal T-cell lymphoblastic lymphoma; the metabolic and molecular confirmation of Gaucher disease were obtained after typical Gaucher cells were found in the patient's bone marrow after a staging biopsy. The morphological and ultrastructural findings leading to the incidental diagnosis of this rare metabolic disorder are illustrated. In addition, we discuss the possible pathogenetic relationships among these 3 distinct clinical entities, as well as the challenges in the differential diagnosis of bone marrow histiocytic infiltrations in patients with hematologic malignancies.
Original language | English (US) |
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Pages (from-to) | 594-598 |
Number of pages | 5 |
Journal | Human pathology |
Volume | 40 |
Issue number | 4 |
DOIs | |
State | Published - Apr 2009 |
Keywords
- Gaucher disease
- Lymphoma
- Neurofibromatosis
ASJC Scopus subject areas
- Pathology and Forensic Medicine