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Arch Gynecol Obstet. 2005 Mar;271(3):259-61. Epub 2004 May 14.

Prenatal diagnosis of Pompe disease by electron microscopy.

Author information

1
Department of Obstetrics and Gynecology, Faculty of Medicine, Chulalongkorn University, 10330 Pathumwan, Bangkok, Thailand. vorapong.p@chula.ac.th

Abstract

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.

PMID:
15146345
DOI:
10.1007/s00404-004-0620-3
[Indexed for MEDLINE]
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