ArticleMolecular genetics and metabolism reports2019
Very rare condition of multiple Gaucheroma: A case report and review of the literature.
Article in Molecular genetics and metabolism reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It has been retracted, and should not be counted. Not yet cited in PubMed.
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Corrections and comments
- Retraction · 2019-07-12Date of Article and/or Notice Unknown · Duplication of Content through Error by Journal/Publisher · Removed · · Not marked retracted in PubMed as of 8.24.2022;
Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThis study presented a 3 years old boy with Gaucher disease (GD) who was treated with enzyme replacement therapy(ERT) for 19 months and developed multiple Gaucheroma. The literature was reviewed.
methodsThe medical chart and literature were reviewed. A boy presented at the age of 15 months with anemia, thrombocytopenia, and hepatosplenomegaly. Enzyme assay and gene mutations confirmed GD. ERT was administered. When the boy was 3 years old, multiple masses were discovered from abdominal MRI and biopsy revealed Gaucheroma. We reviewed 20 GD patients with Gaucheroma and Gaucher cell infiltrated lymphadenopathies.
conclusionGaucheroma is a rare condition in regularly treated GD patients. This patient showed poor response to doubled ERT doses. The imaging studies are necessary for Gaucher patients to detect Gaucheroma and determine their malignancy. Regular checkups are recommended in all GD patients even with ERT treatment, due to the possibility of having a deteriorating change, like Gaucheroma.
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