Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease

Publication year: 2011
Source: Brain and Development, In Press, Corrected Proof, Available online 14 June 2011

Keiko, Ishigaki , Terumi, Murakami , Toshio, Nakanishi , Eri, Oda , Takatoshi, Sato , …

Pompe disease is classified into infantile and late-onset (childhood and adult) forms based on onset age and degree of organ involvement. While benefits of enzyme replacement therapy (ERT) for the infantile form have been confirmed, efficacy for late-onset forms reportedly varies. We report close monitoring of initial ERT, focusing especially on the first year, in a 12-year-old boy with childhood-onset Pompe disease. At age 10, he started ERT at 20mg/kg every other week. Respiratory and motor functions were evaluated at each infusion, and by skeletal muscle computed tomography (CT) and cardiac echography every 4months. He gained the ability to climb…