Histopathological diagnosis of a type vii mucopolysaccharidosis after pregnancy termination.
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.
Delbecque
Katty
K
Department of Pathology, CHU, University of Liege, Belgium. kdelbecque@chu.ulg.ac.be
Gaillez
Stéphanie
S
Schaaps
Jean Pierre
JP
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