DOI: 10.16899/jcm.1995984 ISSN: 2667-7180

Demographic Characteristics, Clinical Features, and Surgical History in Children with Mucopolysaccharidoses: A Single Center Experience

Sabire Gökalp, Halil Tuna Akar, Asburce Olgac
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Background: Mucopolysaccharidoses (MPS) are a heterogeneous group of lysosomal storage disorders characterized by progressive glycosaminoglycan accumulation and multisystem involvement. Owing to their broad clinical spectrum, patients require lifelong multidisciplinary follow-up. This study aimed to characterize the demographic profile, clinical manifestations, and surgical history of pediatric patients with mucopolysaccharidoses followed at a tertiary referral center.Methods: This retrospective descriptive study included 10 patients with confirmed MPS. Demographic characteristics, MPS subtype, enzyme replacement therapy (ERT) status, hearing and ophthalmological findings, cardiac involvement, and surgical history were retrospectively reviewed from medical records.Results: Ten patients (6 males, 4 females) were included. The cohort comprised three patients with MPS VI, two with MPS II, and one patient each with MPS I, IVA, IIIB, IIIC, and IIID. Seven patients (70%) were receiving ERT. Cardiac involvement was identified in four patients (40%), whereas hearing impairment was documented in three patients (30%). Five patients (50%) had a history surgical intervention. Otorhinolaryngological procedures were the most common operations, followed by inguinal hernia repair, trigger finger release, cervical stabilization, and neurosurgical procedures. Airway abnormalities and cervical spine involvement were notable perioperative findings.Conclusion: This case series demonstrates the marked clinical heterogeneity of MPS and its multisystem manifestations. Despite advances in disease-specific therapy, many patients continue to require multidisciplinary follow-up because of persistent cardiac, auditory, musculoskeletal, and airway involvement. Recognition of perioperative risk factors may facilitate safer surgical management when operative interventions are required.

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