Abstract
We report the case of a pregnant woman who was diagnosed with hydrops fetalis at 17 weeks in two consecutive pregnancies. Once an immune origin was ruled out, the association with lysosomal storage diseases was investigated during the second pregnancy. This showed decreased activity of beta-glucuronidase in cultured cells and a glycosaminoglycan profile in amniotic fluid, indicative of Sly disease or mucopolysaccharidosis type VII which is inherited in an autosomal recessive pattern.
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