Small Bowel Mucosal Involvement and Mesenteric Mass Formation in a Young Female with Type 3 Gaucher Disease. A Case Report
Anthony J. Emanuel1, Nathan Holman2, Susan E. Presnell1, Cynthia T. Welsh1, Shashidhar Pai3, Shaoli Sun1
1) Department of Pathology and Laboratory Medicine,
2) Division of Gastroenterology and Hepatology, Department of Public Health Science,
3) Division of Medical Genetics, Department of Pediatrics, Medical University of South Carolina, Charleston, SC., USA
Gaucher Disease arises due to a deficiency in the enzyme glucocerebrosidase and is the most common lysosomal storage disease. This enzyme deficiency leads to the accumulation of glucocerebroside within macrophages (Gaucher cells) and the resulting infiltration of these cells into organs can cause clinical symptoms. There are three types of Gaucher Disease that differ based on the clinical course and the presence or absence of neurological involvement, but classically, Gaucher cell infiltrates impact a patient’s spleen, liver, bone marrow and cortex. In this report, we present a case of Type 3 Gaucher Disease involving small bowel mucosa with a mesenteric mass formation. These unusual sites of Gaucher cell deposition likely led directly to uncommonly seen clinical symptoms, including small bowel obstruction and lower gastrointestinal hemorrhage. Key words: Gaucher Disease – mesenteric mass – small bowel obstruction, gastrointestinal pathology. Abreviations: CT: computer tomography; GC: Gaucher cells; GD: Gaucher Disease; GI: gastrointestinal; PEG:
percutaneous endoscopic gastrostomy; SMV: superior mesenteric vein.