Work

Differential Diagnosis of Mucopolysaccharidoses Types I, II , III , IVA , and VI Through Analysis of Leukocytic Inclusions

Year: 2026

Type: article

Abstract: Mucopolysaccharidoses (MPS) are lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs), which can lead to cytoplasmic alterations in leukocytes. The objective of this study was to characterize leukocyte inclusions in patients with different types of MPS and assess their diagnostic relevance. A total of 69 Brazilian patients diagnosed with five MPS types were evaluated through cytological analysis of peripheral blood smears. Distinct leukocyte inclusion patterns were observed in four subtypes. In MPS Type II, small violet cytoplasmic inclusions were present in lymphocytes. In MPS Type III, larger violet inclusions were identified in lymphocytes. Patients with MPS Type IVA showed large, sparse granulations in neutrophils, while those with MPS Type VI exhibited coarse inclusions in all leukocytes, characteristic of the Alder-Reilly anomaly. No leukocyte inclusions were found in MPS Type I. These observations demonstrate that leukocyte inclusions vary according to MPS subtype and may represent a useful auxiliary cytological finding. Their identification may support diagnostic suspicion and contribute to the differential diagnosis of MPS II, III, IVA, and VI, complementing enzymatic and biochemical testing.

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.70316

Authors: Márcio A. W. Melo, Marcelo S. Kertenetzky, Cristina M. Silveira, Maíra M. Ribeiro, Paula F. Medeiros, Gabriela S. Arcanjo

Institutions: Universidade de Pernambuco, Universidade Estadual de Campinas (UNICAMP), Universidade Federal de Pernambuco

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,710