Despite the adenoids are regularly removed in patients with mucopolysaccharidoses (MPS), the underlying tissue and cellular pathologies remain understudied. We characterized an (immuno)histopathologic and ultrastructural phenotype dominated by lysosomal storage changes in a specific subset of adenotonsillar paracortical cells in 8 MPS patients (3 MPS I, 3 MPS II, and 2 MPS IIIA). These abnormal cells were effectively detected by an antibody targeting the lysosomal membrane tetraspanin CD63. Important, CD63+ storage vacuoles in these cells lacked the monocytes/macrophages lysosomal marker CD68. Such a distinct patterning of CD63 and CD68 was not present in a patient with infantile neurovisceral variant of acid sphingomyelinase deficiency. The CD63+ storage pathology was absent in two MPS I patients who either received enzyme-replacement therapy or underwent hematopoietic stem cells transplantation prior the adenoidectomy. Our study demonstrates novel features of lysosomal storage patterning and suggests diagnostic utility of CD63 detection in adenotonsillar lymphoid tissue of MPS patients.

Centre for Inborn Errors of Metabolism National Institute of Children's Diseases in Bratislava Bratislava Slovakia

Department of ENT 2nd Faculty of Medicine Charles University and Motol University Hospital Prague Prague Czech Republic

Department of Otorhinolaryngology 3rd Faculty of Medicine Charles University and University Hospital Kralovske Vinohrady Prague Prague Czech Republic

Department of Paediatrics Faculty of Medicine Comenius University in Bratislava and National Institute of Children's Diseases in Bratislava Bratislava Slovakia

Institute of Pathology 1st Faculty of Medicine Charles University and General University Hospital Prague Prague Czech Republic

Research Unit for Rare Diseases Department of Paediatrics and Inherited Metabolic Disorders 1st Faculty of Medicine Charles University and General University Hospital Prague Ke Karlovu 2 128 00 Prague 2 Czech Republic

Virchows Arch. 2025 Mar;486(3):643. doi: 10.1007/s00428-024-03902-9. PubMed

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