Chorionic Villus Ultrastructure in Type II Glycogen Storage Disease (Pompe's Disease)

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Abstract
Type II glycogen storage disease (Pompe's disease) is a fatal lysosomal disorder inherited in an autosomal recessive pattern and characterized morphologically by intracellular vacuoles filled with glycogen in several tissues. Since these vacuoles are present in the skin of affected persons, one can search for them in amniotic-fluid cells and know within days of amniocentesis whether a fetus at risk for the disease has it,1 but the procedure cannot be done before 16 weeks of gestation.

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