Sudden deterioration in nonclassical infantile‐onset Pompe disease responding to alglucosidase alfa infusion therapy: A case report

Summary A patient with atypical infantile Pompe disease suffered acute respiratory insufficiency at the age of 8 years which resulted in complete immobilization and dependence on assisted ventilation. Shortly after initiation of enzyme replacement therapy, she regained her mobility and, after 20 mon...

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Bibliographic Details
Published in:Journal of inherited metabolic disease 2006-12, Vol.29 (6), p.763-763
Main Authors: Pascual‐Pascual, S. I., Rubio, P., Albajara, L., Gutierrez, M., Chabas, A., Alvarado, F.
Format: Article
Language:English
Subjects:
alpha-Glucosidases - therapeutic use
Child
Female
Glycogen Storage Disease Type II - drug therapy
Humans
Respiratory Insufficiency - drug therapy
Time Factors
Treatment Outcome
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Summary:Summary A patient with atypical infantile Pompe disease suffered acute respiratory insufficiency at the age of 8 years which resulted in complete immobilization and dependence on assisted ventilation. Shortly after initiation of enzyme replacement therapy, she regained her mobility and, after 20 months of treatment, she now leads an almost normal life with limited restrictions.
ISSN:0141-8955
1573-2665
DOI:10.1007/s10545-006-0427-4