Article
A clinical study of 77 patients with mucopolysaccharidosis type II
Registro en:
SCHWARTZ, Ida V. D. et al. A clinical study of 77 patients with mucopolysaccharidosis type II. Acta Paediatrica, v. 96, p. 63-70, 2007.
0803-5253
10.1111/j.1651-2227.2007.00212.x
Autor
Schwartz, Ida V. D.
Ribeiro, Márcia G.
Mota, João G.
Toralles, Maria Betânia P.
Correia, Patrícia
Horovitz, Dafne Dain Gandelman
Santos, Emerson S.
Monlleo, Isabella L.
Fett-Conte, Agnes C.
Sobrinho, Ruy P. Oliveira
Norato, Denise Y. J.
Paula, Anna Carolina
Kim, Chong A.
Duarte, Andréa R
Boy, Raquel
Valadares, Eugênia
Michelena, Maria De
Mabe, Paulina
Martinhago, Cyro D.
Pina-Neto, João M.
Kok, Fernando
Leistner-Segal, Sandra
Burin, Maira G.
Giugliani, Roberto
Resumen
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. For the whole sample (median age, 8.2 years; range, 2.8–
53.0 years), neurological degeneration, typical pebbly skin lesions, seizures and extensive dermal
melanocytosis were found in 23.3, 13.0, 13.0 and 1.3% of the cases, respectively. The most
frequently reported echocardiogram abnormality was mitral valve regurgitation. Refraction errors were
the most common ophthalmological manifestation. The following characteristics were found to be
associated with the severe form of MPS II: earlier age at biochemical diagnosis, higher levels of
urinary glycosaminoglycans, language development delay, behavioural disturbances, poor school
performance and mental retardation.
Conclusion: Our results suggest that there is a considerable delay between the onset of signs and symptoms and
the diagnosis of MPS II in Brazil (and probably in South America as well), and that many complications of this
disease are underdiagnosed and undertreated. Therefore, the implementation of programmes aiming to
increase the awareness of the disease, the availability of biochemical diagnostic tests and the provision of better
support to affected patients is urgently needed.