A clinical study of 77 patients with mucopolysaccharidosis type II.

Aim: This study aims to assess the clinical features of 77 South American patients (73 Brazilian) with mucopolysaccharidosis type II (MPS II).

Methods: Details of the patients and their disease manifestations were obtained from a review of medical records, interviews with the patients and/or their families, and physical examination of the patients.

Results: Mean birth weight was 3360 g, median age at onset of symptoms was 18 months and median age at diagnosis was 6 years.