{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T03:50:20Z","timestamp":1764993020523,"version":"3.46.0"},"reference-count":10,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Clin Pathol"],"published-print":{"date-parts":[[1997,3]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1136\/jcp.50.3.252","type":"journal-article","created":{"date-parts":[[2007,6,9]],"date-time":"2007-06-09T00:50:46Z","timestamp":1181350246000},"page":"252-254","source":"Crossref","is-referenced-by-count":33,"title":["Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications."],"prefix":"10.1136","volume":"50","author":[{"given":"A J","family":"Molyneux","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Blair","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Coleman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Daish","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1997,3,1]]},"reference":[{"key":"ref_1","first-page":"429","article-title":"Hydrops fetalis and other forms of excess fluid accumulation in the fetus","volume-title":"offetal and perinatal pathology","author":"Keeling, J.W.","year":"1991","unstructured":"Keeling JW. Hydrops fetalis and other forms of excess fluid accumulation in the fetus. In: Wigglesworth JS, Singer DB, eds. Textbook offetal and perinatal pathology. Boston: Blackwell Scientific Publications, 1991:429-54."},{"key":"ref_2","first-page":"593","article-title":"Inborn metabolic diseases of the perinatal infant","volume-title":"offetal and perinatal pathology","author":"Dimmick, J.E.; Applegarth, D.A.","year":"1991","unstructured":"Dimmick JE, Applegarth DA. Inborn metabolic diseases of the perinatal infant. In: Wigglesworth JS, Singer DB, eds. Textbook offetal and perinatal pathology. Boston: Blackwell Scientific Publications, 1991:593-643."},{"key":"ref_3","first-page":"2466","article-title":"The metabolic and molecular basis of inherited disease","author":"Neufeld, E.F.","year":"1995","unstructured":"Neufeld EF, Muenzer J. In: Scriver C, Beauclef AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease. 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Mucopolysaccharidosis VII (beta glucuronidase deficiency) presenting as non-immune hydrops fetalis. Jf Pediatr 1982;101:574-6.","journal-title":"Jf Pediatr"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1002\/ana.410140415","article-title":"Postmortem observations on beta glucuronidase deficiency presenting as hydrops fetalis","volume":"14","author":"Irani, D.; Kin, H.S.; El-Hibri, H.; Dutton, R.V.; Beaudet, A.; Armstrong, D.","year":"1983","unstructured":"Irani D, Kin HS, El-Hibri H, Dutton RV, Beaudet A, Armstrong D. Postmortem observations on beta glucuronidase deficiency presenting as hydrops fetalis. 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Beta-glucuronidase deficiency: identification of an affected fetus with simultarleous sampling of chorionic villus and amniotic fluid. 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