Alpha-mannosidosis: a case with novel ultrastructural and light microscopy findings

• DOI: 10.1515/jpem-2023-0357
• Publication Date: 2023-11-18T18:40:40Z
• Authors: Matthew Leong; Bindu Sathi; Amy Davis; Syed Hamid; Sandy Wu; Jeremy Woods; Sandhya Kharbanda; Xiaomo Li; Jean Hou
• Keywords: 0301 basic medicine; 03 medical and health sciences; 3. Good health

Abstract

Objectives Alpha-mannosidosis is a rare genetic lysosomal storage condition leading to the systemic buildup of oligomannoside. Clinical presentation and associated conditions, as well as the full extent of histopathologic changes associated with this disease process, are not fully understood.

Case presentation We present the case of an 8-year-1-month old patient with persistent anemia and who was initially diagnosed with Celiac disease before ultimately being diagnosed with alpha-mannosidosis. As part of his diagnostic work-up, duodenal and bone marrow biopsies were examined by pathology. Duodenal biopsies showed foamy plasma cells expanding the lamina propria which triggered a workup for a genetic storage disease; features suggestive of Celiac disease which resolved on gluten-free diet were also noted by pathology. Bone marrow analysis via electron microscopy showed cytoplasmic granules and inclusions in multiple immune cell lines.

Conclusions Alpha-mannosidosis can occur with Celiac disease and milder forms may only be suspected from incidental pathology findings. The ultrastructural bone marrow findings from this case, the first to be reported from human, show numerous disease-associated changes in multiple immune cell lines whose contribution to disease-associated immunodeficiency is unclear.