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Sudden deterioration in nonclassical infantile‐onset Pompe disease responding to alglucosidase alfa infusion therapy: A case report
Author(s) -
PascualPascual S. I.,
Rubio P.,
Albajara L.,
Gutierrez M.,
Chabas A.,
Alvarado F.
Publication year - 2006
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-006-0427-4
Subject(s) - enzyme replacement therapy , medicine , pediatrics , assisted ventilation , disease , surgery
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.