Archives of Gynecology and Obstetrics

, Volume 271, Issue 3, pp 260–262

Prenatal diagnosis of Pompe disease by electron microscopy

  • Vorapong Phupong
  • Shanop Shuangshoti
  • Piriya Sutthiruangwong
  • Supang Maneesri
  • Penpan Nuayboonma
  • Vorasuk Shotelersuk
Case Report

DOI: 10.1007/s00404-004-0620-3

Cite this article as:
Phupong, V., Shuangshoti, S., Sutthiruangwong, P. et al. Arch Gynecol Obstet (2005) 271: 260. doi:10.1007/s00404-004-0620-3

Abstract

Introduction

Pompe disease is one of the lysosomal storage disorders caused by α-glucosidase deficiency. The disease is characterized by accumulation of glycogen in the lysosome. The accumulation has unique ultrastructural features, which enable a prenatal diagnosis possible by electron microscopy.

Materials and methods

A prenatal diagnosis of Pompe disease by electron microscopic study of chorionic villus biopsies is described in a fetus of a mother whose previous child had died of the disease.

Results

Electron microscopy revealed fibrocytes with typical vacuoles filled with glycogen. A prenatal diagnosis of Pompe disease was made and subsequently confirmed by the autopsy study of the abortus.

Conclusion

We report the usefulness of electron microscopy for prenatal diagnosis in the first trimester of Pompe disease.

Keywords

Prenatal diagnosisPompe diseaseElectron microscopyChorionic villus sampling

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Vorapong Phupong
    • 1
  • Shanop Shuangshoti
    • 2
  • Piriya Sutthiruangwong
    • 2
  • Supang Maneesri
    • 2
  • Penpan Nuayboonma
    • 2
  • Vorasuk Shotelersuk
    • 3
  1. 1.Department of Obstetrics and Gynecology, Faculty of MedicineChulalongkorn UniversityPathumwan, BangkokThailand
  2. 2.Department of Pathology, Faculty of MedicineChulalongkorn UniversityPathumwan, BangkokThailand
  3. 3.Department of Pediatrics, Faculty of MedicineChulalongkorn UniversityPathumwan, BangkokThailand