title: Histopathological diagnosis of a type vii mucopolysaccharidosis after pregnancy termination.
abstract: Type VII mucopolysaccharidosis is a very rare recessive lysosomal storage disease. We diagnosed a type VII MPS in a case of severe fetal hydrops after pregnancy termination at 23 weeks of gestation. The diagnosis was suspected on histopathological examination by the presence of foam cells in many viscera and foamy placental Hofbauer cells. Enzyme assay on cultured amniotic cells showed a markedly deficient beta-glucuronidase activity, thus confirming the diagnosis. This report shows the importance of a precise necropsy diagnosis in nonimmune hydrops because of putative implications for genetic counseling and prenatal diagnosis in subsequent pregnancies.
authors.affiliation: Department of Pathology, CHU, University of Liege, Belgium. kdelbecque@chu.ulg.ac.be
authors.forename: Katty
authors.initials: K
authors.lastname: Delbecque
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Gaillez
authors.forename: Jean Pierre
authors.initials: JP
authors.lastname: Schaaps
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D005260:Female; D005333:Fetus / Q000473:pathology*; D006801:Humans; D015160:Hydrops Fetalis / Q000209:etiology / Q000378:metabolism / Q000473:pathology*; D008297:Male; D016538:Mucopolysaccharidosis VII / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D010920:Placenta / Q000473:pathology; D011247:Pregnancy; D011296:Prenatal Diagnosis