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. Cited by 8 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
8 citing papers in PubMed, 19 citations in OpenAlex.
- Review
- Rare of Gaucher's Disease Complication of Splenic Multiple Gaucheroma.Endocrine, metabolic & immune disorders drug targets · 2025Article
- A case of gaucher disease with a rare complication of gaucheroma and protein-losing enteropathy.Molecular genetics and metabolism reports · 2024Article
- Pediatric Gaucher Disease Presenting with Massive Splenomegaly and Hepatic Gaucheroma.Children (Basel, Switzerland) · 2023Article
- Gaucheroma of Mesenteric Lymph Nodes and Their Ultrasound Appearance: A Case Report.Journal of the Belgian Society of Radiology · 2023Article
- Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas.Journal of pediatric genetics · 2022Article
- Cross-sectional imaging findings of splenic infections: is differential diagnosis possible?Abdominal radiology (New York) · 2021Review
- Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease.Molecular genetics and metabolism reports · 2020Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 1 country.
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 then developed multiple Gaucheroma. Review of literature was performed simultaneously.
methodsThe medical chart and literature were reviewed. A boy presented at the age of 15 months with anemia, thrombocytopenia, and hepatosplenomegaly. GD was confirmed by enzyme assay and gene mutations. ERT was administered right after the diagnosis. When the boy was 3 years old, multiple masses were discovered during a regular checkup abdominal MRI and biopsy revealed Gaucheroma. We also reviewed 20 GD patients with Gaucheroma and Gaucher cell infiltrated lymphadenopathies.
conclusionGaucheroma is a rare condition of regularly treated GD patients. This patient even 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 regular treatment, due to the possibility of having deteriorating change, like Gaucheroma.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.