Reference : Histopathological diagnosis of a type vii mucopolysaccharidosis after pregnancy terminat...
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/23675
Histopathological diagnosis of a type vii mucopolysaccharidosis after pregnancy termination.
English
Delbecque, Katty mailto [Centre Hospitalier Universitaire de Liège - CHU > > Anatomie pathologique >]
Gaillez, Stephanie mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
Schaaps, Jean-Pierre mailto [Centre Hospitalier Universitaire de Liège - CHU > > Gynécologie-Obstétrique CHR >]
2009
Fetal & Pediatric Pathology
Taylor & Francis Ltd
28
1
1-8
Yes (verified by ORBi)
International
1551-3815
1551-3823
[en] Abortion, Induced ; Adult ; Female ; Fetus/pathology ; Humans ; Hydrops Fetalis/etiology/metabolism/pathology ; Male ; Mucopolysaccharidosis VII/complications/metabolism/pathology ; Placenta/pathology ; Pregnancy ; Prenatal Diagnosis
[en] 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.
http://hdl.handle.net/2268/23675
10.1080/15513810802547943

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