Very rare condition of multiple Gaucheroma: A case report and review of the literature

Abstract

Background This 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. Methods The 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. Conclusion Gaucheroma 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.

Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas

“…1 Since then $ 23 cases of GD with Gaucheromas have been reported, primarily in mesenteric and mediastinal lymph nodes. 2 We also reported previously a case of GD type 3 with an extremely rare complication of large soft tissue Gaucheromas. 3 Gaucheromas can cause serious clinical consequences and ERT does not seem to prevent Gaucheromas from developing.…”

Reduction of large soft‐tissue Gaucheromas with substrate reduction therapy

“…Approximately 25 cases of intra‐abdominal (mostly mesenteric) and mediastinal Gaucheromas have been reported . Large soft‐tissue Gaucheromas have rarely been described in the literature.…”

“…Approximately 25 cases of intra-abdominal (mostly mesenteric) and mediastinal Gaucheromas have been reported. 3 Large soft-tissue Gaucheromas have rarely been described in the literature. Based on the observation of significant reduction of the large Gaucheromas after introduction of SRT in the presented case, there may be a role for SRT in progressive internal Gaucheromas which cause complications such as impingement of the mesenteric vessels, inferior vena cava, and abdominal aorta, and possibly leading to serious complications including proteinlosing enteropathy.…”

Cross-sectional imaging findings of splenic infections: is differential diagnosis possible?

“…Imaging findings are generally non-specific, and the differential diagnosis list is quite wide in the presence of solid lesions in the spleen. Primary benign and malignant neoplastic splenic diseases, lymphomatous involvement, extramedullary hematopoiesis (EMH), Gaucher nodules, and metastases are among the main differential diagnoses [87,89].…”