Multidisciplinary care allowing uneventful vaginal delivery in a woman with Pompe disease

Barbara Perniconi; Daniele Vauthier-Brouzes; Capucine Morélot-Panzini; Marc Dommergues; Jacky Nizard; Nadjib Taouagh; Jean-Yves Hogrel; Aurélie Canal; Laurent Servais; Pascal Laforêt

doi:10.1016/j.nmd.2016.02.016

Multidisciplinary care allowing uneventful vaginal delivery in a woman with Pompe disease

Neuromuscul Disord. 2016 Sep;26(9):610-3. doi: 10.1016/j.nmd.2016.02.016. Epub 2016 Jun 27.

Affiliations

¹ Institute of Myology, Groupe hospitalier Pitié-Salpêtrière, AP-HP, Sorbonne Universités, UPMC Universités Paris 06, INSERM, Paris, France. Electronic address: [email protected].
² Service de gynécologie obstétrique, Groupe hospitalier Pitié-Salpêtrière, AP-HP, Sorbonne Universités, UPMC Universités Paris 06, CNRS UMR 7222, INSERM U1150, Paris, France.
³ Service de Pneumologie et Réanimation Médicale Groupe hospitalier Pitié-Salpêtrière, AP-HP, Sorbonne Universités, UPMC Paris 06, INSERM, UMR S 1158 "Neurophysiologie Respiratoire Expérimentale et Clinique", Paris, France.
⁴ Service de gynécologie obstétrique, Groupe hospitalier Pitié-Salpêtrière, AP-HP, Sorbonne Universités, UPMC Universités Paris 06, CNRS UMR 7222, INSERM U1150, Paris, France; Sorbonne Universités, UPMC Universités Paris 06, CNRS UMR 7222, INSERM U1150, Paris, France.
⁵ Institute of Myology, Groupe hospitalier Pitié-Salpêtrière, AP-HP, Sorbonne Universités, UPMC Universités Paris 06, INSERM, Paris, France.
⁶ Paris-Est Neuromuscular Center, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.

PMID: 27460347
DOI: 10.1016/j.nmd.2016.02.016

Abstract

Pregnancy and delivery are challenging in women affected by Pompe disease with respiratory involvement. We describe a 28-year-old woman, who continued to receive enzyme replacement therapy during pregnancy and had an uneventful vaginal birth. Before pregnancy the patient's vital capacity was 52% in sitting position and 51% in supine position. At 32 weeks gestation her vital capacity in sitting position was 46% and 35% in supine position. Nocturnal non-invasive mechanical ventilation was introduced at this time. Labor was induced at 34 weeks following premature rupture of membranes, under epidural anesthesia. A 2590 g healthy baby was delivered by vacuum extraction. Assisted ventilation was continued throughout labor and post-partum. This observation suggests a successful pregnancy and a normal vaginal delivery can be achieved in patients with symptomatic Pompe Disease, provided multidisciplinary care is offered.

Keywords: Enzyme replacement therapy (ERT); Glycogen Storage Disease type II (GSDII); Pompe disease.

Publication types

Case Reports

MeSH terms

Adult
Anesthesia, Epidural
Disease Management
Enzyme Replacement Therapy
Female
Glycogen Storage Disease Type II / therapy*
Humans
Labor, Induced*
Pregnancy
Pregnancy Complications / therapy*
Vacuum Extraction, Obstetrical*