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.
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Acknowledgements
The authors wish to thank Ms. Vanee Wattanaseamkit for her preparation of the pathological slides.
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Phupong, V., Shuangshoti, S., Sutthiruangwong, P. et al. Prenatal diagnosis of Pompe disease by electron microscopy. Arch Gynecol Obstet 271, 260–262 (2005). https://doi.org/10.1007/s00404-004-0620-3
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DOI: https://doi.org/10.1007/s00404-004-0620-3