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Management of a pregnancy complicated by pompe disease

Jennifer Weida1, B E Hainline, C Bodkin

  • 1Division of Clinical and Biochemical Genetics, Department of Medical and Molecular Genetics, Indiana University School of Medicine, 975 West Walnut Street, IB 130, Indianapolis, IN 46202, USA.

Case Reports in Obstetrics and Gynecology
|January 11, 2013
PubMed

Insights

Pregnancy in women with Pompe disease (PD) presents challenges, requiring specialized care. This case highlights the need for a multidisciplinary team to manage maternal health and ensure a viable infant delivery.

Area of Science:

  • Reproductive Medicine
  • Neuromuscular Disorders
  • Metabolic Diseases

Background:

  • Increasing numbers of women with metabolic muscle diseases are reaching reproductive age.
  • Essential to understand the impact of these conditions on pregnancy outcomes.
  • Pompe disease (PD) is a rare metabolic myopathy affecting muscle function.

Purpose of the Study:

  • To present a case study of pregnancy in a patient with juvenile-onset Pompe disease.
  • To discuss the management challenges and outcomes of pregnancy complicated by PD.
  • To emphasize the importance of a multidisciplinary approach in managing such pregnancies.

Main Methods:

  • Case report of a 23-year-old woman with juvenile-onset Pompe disease (G1P0).
  • Detailed description of pregnancy course, complications, and delivery.
  • Review of the multidisciplinary management strategy employed.

Main Results:

  • Successful delivery of a viable infant via cesarean section at 32 weeks and 6 days.
  • Pregnancy was complicated by significant decline in maternal pulmonary status, muscular strength, and mobility.
  • Demonstrated feasibility of managing PD during pregnancy with intensive support.

Conclusions:

  • Managing pregnancies in women with Pompe disease necessitates a comprehensive, multidisciplinary team.
  • Expertise required includes neuromuscular disease specialists, maternal-fetal medicine, genetics, pulmonology, anesthesia, and dietetics.
  • Early intervention and coordinated care are crucial for optimizing maternal and fetal outcomes in PD pregnancies.

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