AIM: We present a 3-year follow-up of a boy with mucopolysaccharidosis type II (MPS II) who had idursulfase therapy initiated at the age of 3 months and compare his clinical course to his healthy twin brother. METHODS: Detailed anthropometric features, ultrasound studies of liver and spleen volumes, echocardiography and audiological examinations, psychological tests, joint range of motion (ROM) and skeletal radiographs were monitored. RESULTS: After 3 years of treatment, the patient has not developed any clinical manifestations of MPS II. He did not develop coarse facial features, joint disease, or organomegaly, and his cardiac function remained normal. There were no pronounced signs of dysostosis multiplex on radiographs. The only difference when compared with his healthy twin brother was lower IQ (Termann-Merrill 98 vs. 118) and mild deformity of one vertebrae. CONCLUSION: Our study suggests that early initiation of enzyme replacement therapy may significantly slow or prevent the development of irreversible disease manifestations and therefore modify the natural history of MPS II.
AIM: We present a 3-year follow-up of a boy with mucopolysaccharidosis type II (MPS II) who had idursulfase therapy initiated at the age of 3 months and compare his clinical course to his healthy twin brother. METHODS: Detailed anthropometric features, ultrasound studies of liver and spleen volumes, echocardiography and audiological examinations, psychological tests, joint range of motion (ROM) and skeletal radiographs were monitored. RESULTS: After 3 years of treatment, the patient has not developed any clinical manifestations of MPS II. He did not develop coarse facial features, joint disease, or organomegaly, and his cardiac function remained normal. There were no pronounced signs of dysostosis multiplex on radiographs. The only difference when compared with his healthy twin brother was lower IQ (Termann-Merrill 98 vs. 118) and mild deformity of one vertebrae. CONCLUSION: Our study suggests that early initiation of enzyme replacement therapy may significantly slow or prevent the development of irreversible disease manifestations and therefore modify the natural history of MPS II.
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: Shunji Tomatsu; Eriko Yasuda; Pravin Patel; Kristen Ruhnke; Tsutomu Shimada; William G Mackenzie; Robert Mason; Mihir M Thacker; Mary Theroux; Adriana M Montaño; Carlos J Alméciga-Díaz; Luis A Barrera; Yasutsugu Chinen; William S Sly; Daniel Rowan; Yasuyuki Suzuki; Tado Orii Journal: Pediatr Endocrinol Rev Date: 2014-09
Authors: Shunji Tomatsu; Carlos J Alméciga-Díaz; Adriana M Montaño; Hiromasa Yabe; Akemi Tanaka; Vu Chi Dung; Roberto Giugliani; Francyne Kubaski; Robert W Mason; Eriko Yasuda; Kazuki Sawamoto; William Mackenzie; Yasuyuki Suzuki; Kenji E Orii; Luis A Barrera; William S Sly; Tadao Orii Journal: Mol Genet Metab Date: 2014-12-09 Impact factor: 4.797
Authors: Christina Lampe; Andrea Atherton; Barbara K Burton; Maria Descartes; Roberto Giugliani; Dafne D G Horovitz; Sandra O Kyosen; Tatiana S P C Magalhães; Ana Maria Martins; Nancy J Mendelsohn; Joseph Muenzer; Laurie D Smith Journal: JIMD Rep Date: 2014-02-11
Authors: Shunji Tomatsu; Carlos J Alméciga-Díaz; Hector Barbosa; Adriana M Montaño; Luis A Barrera; Tsutomu Shimada; Eriko Yasuda; William G Mackenzie; Robert W Mason; Yasuyuki Suzuki; Kenji E Orii; Tadao Orii Journal: Expert Opin Orphan Drugs Date: 2013-10-01 Impact factor: 0.694