Prenatal diagnosis of Pompe disease by electron microscopy.

INTRODUCTION: Pompe disease is one of the lysosomal storage disorders caused by alpha-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.