title: Pregnancy during enzyme replacement therapy for late-onset acid maltase deficiency.
abstract: We report the case of a female patient who developed Pompe's disease when she was 19. She received enzyme replacement therapy from the age of 35, and after three years of treatment the improvement in her clinical condition was such that she was able to consider having a baby. It was the patient's wishes to continue with her treatment throughout the entirety of her pregnancy. There were no complications, but there was a clear deterioration in motor and respiratory functions. She delivered at term by Caesarean section, and the child was healthy. Six months later, we noted an improvement of her motor and respiratory functions. The child was developing normally.
authors.affiliation: Hôpital Clermont Tonnerre, rue Fonferrier, 29200 Brest, France. fabien.zagnoli@santarm.fr
authors.forename: Fabien
authors.initials: F
authors.lastname: Zagnoli
authors.forename: Amelie
authors.initials: A
authors.lastname: Leblanc
authors.forename: Christian
authors.initials: C
authors.lastname: Blanchard
mesh_terms: D000328:Adult; D017668:Age of Onset; D056947:Enzyme Replacement Therapy / Q000009:adverse effects; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy* / Q000453:epidemiology / Q000503:physiopathology; D006801:Humans; D009043:Motor Activity / Q000187:drug effects / Q000502:physiology; D011247:Pregnancy / Q000502:physiology*; D011248:Pregnancy Complications / Q000453:epidemiology; D011256:Pregnancy Outcome; D012137:Respiratory System / Q000187:drug effects / Q000503:physiopathology; D012307:Risk Factors; D000520:alpha-Glucosidases / Q000494:pharmacology / Q000627:therapeutic use*
chemical_list: D000520:alpha-Glucosidases