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.
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.
Authors: Laura López-Marín; Luis G Gutiérrez-Solana; Luis Aldamiz-Echevarria Azuara; Rogelio Simón de Las Heras; Anna Duat Rodríguez; Verónica Cantarín Extremera Journal: JIMD Rep Date: 2013-02-02
Authors: Osvaldo Artigalás; Valeska Lizzi Lagranha; Maria Luiza Saraiva-Pereira; Maira Graeff Burin; Charles Marques Lourenço; Hélio van der Linden; Mara Lúcia Ferreira Santos; Sergio Rosemberg; Carlos Eduardo Steiner; Fernando Kok; Carolina F Moura de Souza; Laura B Jardim; Roberto Giugliani; Ida Vanessa Schwartz Journal: J Inherit Metab Dis Date: 2010-07-02 Impact factor: 4.982
Authors: Sung Yoon Cho; Rimm Huh; Mi Sun Chang; Jieun Lee; Younghee Kwun; Se Hyun Maeng; Su Jin Kim; Young Bae Sohn; Sung Won Park; Eun-Kyung Kwon; Sun Ju Han; Jooyoun Jung; Dong-Kyu Jin Journal: J Korean Med Sci Date: 2014-01-28 Impact factor: 2.153