Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications.
Open Access
- 1 March 1997
- journal article
- case report
- Published by BMJ in Journal of Clinical Pathology
- Vol. 50 (3) , 252-254
- https://doi.org/10.1136/jcp.50.3.252
Abstract
A case of mucopolysaccharidosis type VII (MPS VII, beta glucuronidase deficiency) causing fatal hydrops fetalis in the third trimester is presented. The diagnosis was suspected on histopathological examination by the presence of foam cells in many of the viscera and foamy change in the placental Hofbauer cells. Electron microscopy showed empty cytoplasmic inclusion bodies within macrophages and in the Hofbauer cells. Enzyme assay of cultured fibroblasts showed markedly deficient beta glucuronidase activity, thus confirming the diagnosis. A detailed and thorough histopathological examination of hydrops fetalis cases is important to detect subtle features of inherited metabolic disorders. Use of a structured necropsy protocol is recommended for cases of non-immune hydrops. Electron microscopy is a useful adjunct to light microscopy in cases where an inherited metabolic disorder is suspected. Precise necropsy diagnosis is important as there are implications for genetic counselling and possible prenatal diagnosis in subsequent pregnancies.Keywords
This publication has 7 references indexed in Scilit:
- Four novel mutations in Mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the β-glucuronidase gene that creates a novel 5'-splice siteHuman Molecular Genetics, 1995
- β‐glucuronidase deficiency: Identification of an affected fetus with simultaneous sampling of chorionic villus and amniotic fluidPrenatal Diagnosis, 1993
- Foamy changes of placental cells in probable beta glucuronidase deficiency associated with hydrops fetalis.Journal of Clinical Pathology, 1993
- β‐glucuronidase deficiency as a cause of fetal hydropsAmerican Journal of Medical Genetics, 1992
- Postmortem observations on β‐glucuronidase deficiency presenting as hydrops fetalisAnnals of Neurology, 1983
- Mucopolysaccharidosis VII (β-glucuronidase deficiency) presenting as nonimmune hydrops fetalisThe Journal of Pediatrics, 1982