Case reportMultidisciplinary care allowing uneventful vaginal delivery in a woman with Pompe disease

•Birth by a Pompe patient in the absence of Cesarian section with multidisciplinary care.•Enzyme replacement therapy during pregnancy and uneventful vaginal birth.•Vaginal delivery despite severe respiratory failure.

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.