Prenatal diagnosis of Pompe disease by electron microscopy.
BACKGROUND
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.


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.


CONCLUSIONS
We report the usefulness of electron microscopy for prenatal diagnosis in the first trimester of Pompe disease.
Phupong
Vorapong
V
Department of Obstetrics and Gynecology, Faculty of Medicine, Chulalongkorn University, 10330 Pathumwan, Bangkok, Thailand. vorapong.p@chula.ac.th
Shuangshoti
Shanop
S
Sutthiruangwong
Piriya
P
Maneesri
Supang
S
Nuayboonma
Penpan
P
Shotelersuk
Vorasuk
V
D000028:Abortion, Induced; D000328:Adult; D002824:Chorionic Villi / Q000648:ultrastructure*; D015193:Chorionic Villi Sampling; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000378:metabolism; D006801:Humans; D008297:Male; D008854:Microscopy, Electron / Q000379:methods*; D011247:Pregnancy