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

Autor:	Leong M; Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Sathi B; Pediatric Hematology Oncology, Valley Children's Hospital, Madera, CA, USA., Davis A; Department of Pathology, Valley Children's Hospital, Madera, CA, USA., Hamid S; Department of Gastroenterology, Valley Children's Hospital, Madera, CA, USA., Wu S; Department of Pathology, Valley Children's Hospital, Madera, CA, USA., Woods J; Department of Pediatrics, Valley Children's Hospital, Madera, CA, USA.; Department of Pediatrics, Stanford University, Palo Alto, CA, USA., Kharbanda S; Department of Pediatric Bone Marrow Transplantation, UCSF Benioff Children's Hospitals, San Francisco, CA, USA., Li X; Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Hou J; Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Jazyk:	angličtina
Zdroj:	Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2023 Nov 20; Vol. 36 (12), pp. 1186-1190. Date of Electronic Publication: 2023 Nov 20 (Print Publication: 2023).
DOI:	10.1515/jpem-2023-0357
Abstrakt:	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. (© 2023 Walter de Gruyter GmbH, Berlin/Boston.)
Databáze:	MEDLINE
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