Archives of gynecology and obstetrics · 2004
Prenatal diagnosis of Pompe disease by electron microscopy.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Phupong Vorapong, Shuangshoti Shanop, Sutthiruangwong Piriya, Maneesri Supang, Nuayboonma Penpan, Shotelersuk Vorasuk
Аннотация
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.
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.