Long-term enzyme-replacement therapy (ERT) with alglucosidase alfa: Evolution of two siblings with juvenile late-onset Pompe disease - Journal of the Neurological Sciences

Long-term enzyme-replacement therapy (ERT) with alglucosidase alfa: Evolution of two siblings with juvenile late-onset Pompe disease - Journal of the Neurological Sciences

Long-term enzyme-replacement therapy (ERT) with alglucosidase alfa: Evolution of two siblings with juvenile late-onset Pompe disease

J. Rafael Bretón MartínezCorrespondence information about the author J. Rafael Bretón MartínezEmail the author J. Rafael Bretón Martínez

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Andrés Cánovas Martínez

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DOI: http://dx.doi.org/10.1016/j.jns.2015.08.007

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Article Info

• Abstract

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Highlights

• •Reports of child and juvenile late-onset Pompe disease (LOPD) on ERT are scarce.
• •We report a boy and a girl with LOPD on long-term ERT (9 and 5 years., respectively).
• •Despite bearing the same mutations, siblings had different age of disease onset.
• •Long-term ERT stabilized motor and spirometry functions in both siblings.
• •Long-term ERT was well-tolerated and safe.

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