Document Detail


Gaucher or pseudo-Gaucher? The challenge of several diseases colliding in a pediatric patient.
MedLine Citation:
PMID:  19084264     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Mariana M Cajaiba; Miguel Reyes-Múgica
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Publication Detail:
Type:  Journal Article     Date:  2008-12-11
Journal Detail:
Title:  Human pathology     Volume:  40     ISSN:  1532-8392     ISO Abbreviation:  Hum. Pathol.     Publication Date:  2009 Apr 
Date Detail:
Created Date:  2009-03-17     Completed Date:  2009-04-21     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9421547     Medline TA:  Hum Pathol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  594-8     Citation Subset:  IM    
Affiliation:
Program of Pediatric and Developmental Pathology, Yale University School of Medicine, New Haven, CT 06520, USA.
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MeSH Terms
Descriptor/Qualifier:
Child
Female
Gaucher Disease / complications*,  genetics,  pathology
Glucosylceramidase / genetics
Humans
Neurofibromatosis 1 / complications*,  genetics,  pathology
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / complications*,  genetics,  pathology
Chemical
Reg. No./Substance:
EC 3.2.1.45/Glucosylceramidase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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