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Massive Mesenteric Lymphadenopathy Causing Protein-losing Enteropathy in Gaucher Disease
Ewan A Simpson1, Matthew R F Jaring, Savvas Andronikou
1*Department of Paediatric Radiology, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust †CRIC Bristol, University of Bristol, Bristol, UK.
Journal of Pediatric Hematology/Oncology
|January 7, 2017
Summary
Protein-losing enteropathy is a rare Gaucher disease complication. Massive mesenteric lymphadenopathy can occur despite treatment, potentially acting as a sanctuary site for the disease.
Area of Science:
- Gastroenterology
- Genetics
- Pediatrics
Background:
- Gaucher disease is a rare genetic disorder.
- Protein-losing enteropathy (PLE) is a serious complication.
- Mesenteric lymphadenopathy can occur in Gaucher disease.
Observation:
- A male child with Gaucher disease developed massive mesenteric lymphadenopathy.
- This occurred despite successful enzyme replacement therapy.
- The child subsequently developed protein-losing enteropathy.
Findings:
- Massive mesenteric lymphadenopathy can be a sanctuary site, refractory to standard Gaucher disease treatments.
- Sonographic and MRI findings are characteristic of this complication.
- This presentation can mimic malignancy, necessitating careful differential diagnosis.
Implications:
- This rare complication of Gaucher disease requires consideration in patients with ascites and PLE.
- Further research into treatment strategies for lymphadenopathy sanctuary sites is warranted.
- Improved diagnostic imaging may aid in early identification and management.
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