Clinical presentation and management of patients with mucopolysaccharidosis type II in Children's Hospital Zagreb

Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive disorder due to the deficiency of the lysosome enzyme iduronate sulfatase (IDS). This results in the lysosomal accumulation of dermatan and heparan sulfate causing progressive dysfunction of many tissues and organs. Aim: to present clinical phenotype, natural course and management of our patients with MPS II. Patients/Methods: During the last ten years we have diagnosed three patients with MPS II. The diagnosis was made based on clinical criteria, abnormal urinary glycosaminoglycan excretion, deficient serum and/or fibroblast IDS activity, and molecular testing. Results: All patients presented with the severe form of the disease. The delay between symptom onset and first visit to a physician was 21 months, 6 months, and 6 weeks and the gap between the first visit to diagnosis was 5 years, 3 years and 2.5 years respectively. Multidisciplinary approach in the management of MPS II patients was adopted, integrating all aspects of their care, but the results are so far limited. Conclusions: there is a significant gap between early symptoms and diagnosis of MPS II in Croatia. An increased awareness of MPS II among the medical communitiy should help to reduce the diagnostic delay in these patietns. This is particularly important having in view the prospect of enzyme replacement therapy for this disorder.