Gaucher or pseudo-Gaucher? The challenge of several diseases colliding in a pediatric patient

Mariana M. Cajaiba, Miguel Reyes-Múgica*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

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 languageEnglish (US)
Pages (from-to)594-598
Number of pages5
JournalHuman pathology
Volume40
Issue number4
DOIs
StatePublished - Apr 2009

Keywords

  • Gaucher disease
  • Lymphoma
  • Neurofibromatosis

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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