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JIMD Rep. 2016;28:111-118. Epub 2015 Nov 17.

Multiple, Successful Pregnancies in Pompe Disease.

Author information

1
Kompetenzzentrum Seltene Stoffwechselkrankheiten, Interdisziplinäres Stoffwechsel-Centrum: Endokrinologie, Diabetes und Stoffwechsel, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany. Ursula.Ploeckinger@charite.de.
2
Kompetenzzentrum Seltene Stoffwechselkrankheiten, Interdisziplinäres Stoffwechsel-Centrum: Endokrinologie, Diabetes und Stoffwechsel, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.
3
Med. Klinik m. S. Infektiologie und Pneumologie, Charité-Universitätsmedizin Berlin, Campus Virchow-Klinikum, Berlin, Germany.
4
Klinik für Neurologie, Charité-Universitätsmedizin Berlin, Campus Charité Mitte, Berlin, Germany.
5
Klinik für Anästhesiologie m. S. Operative Intensivmedizin, Charité-Universitätsmedizin Berlin, Campus Charité Mitte, Berlin, Germany.
6
Klinik für Gynäkologie, Charité-Universitätsmedizin Berlin, Campus Charité Mitte, Berlin, Germany.

Abstract

Pompe disease is an autosomal recessive lysosomal storage disease characterized in adult patients by slowly progressive limb-girdle muscle weakness and respiratory insufficiency. Data on pregnancy in women with Pompe disease, intrauterine development of the fetus and parturition are rare. Here we describe a twin pregnancy followed by a second pregnancy in a 38-year-old female patient with Pompe disease. We report the impact of pregnancy on muscle and respiratory functions as well as the neurological and endocrine systems and discuss the medical consequences for anaesthetic management at parturition.

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