{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T23:54:38Z","timestamp":1762473278837,"version":"build-2065373602"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,7,10]],"date-time":"2017-07-10T00:00:00Z","timestamp":1499644800000},"content-version":"vor","delay-in-days":190,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"CHU Brugmann"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Pediatrics"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:p>\n                    We report on the detection of discordant inclusions in the brain of a 25\u2010week female fetus with a very rare lysosomal storage disease, namely, Sly disease (mucopolysaccharidosis (MPS) type VII), presenting with nonimmune hydrops fetalis. Besides vacuolated neurons, we found abundant deposition of polyglucosan bodies (PGBs) in the developing brain of this fetus in whom MPS\u2010VII was corroborated by lysosomal beta\u2010glucuronidase\u2010deficiency detected in fetal blood and fetal skin\u2010fibroblasts and by the presence of a heterozygous pathogenic variant in the\n                    <jats:italic>GUSB<\/jats:italic>\n                    gene in the mother. Fetal\/neonatal metabolic disorders with PGB\u2010deposition are extremely rare (particularly in relation to CNS involvement) and include almost exclusively subtypes of glycogenosis (types IV and VII). The accumulation of PGBs (particularly in the\n                    <jats:italic>fetal brain<\/jats:italic>\n                    ) has so far\n                    <jats:italic>not<\/jats:italic>\n                    been depicted in Sly disease. This is the first report on such \u201caberrant\u201d association. Besides, the detection of these CNS inclusions at such an early developmental stage is remarkably unique.\n                  <\/jats:p>","DOI":"10.1155\/2017\/9523427","type":"journal-article","created":{"date-parts":[[2017,7,10]],"date-time":"2017-07-10T17:06:55Z","timestamp":1499706415000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII"],"prefix":"10.1155","volume":"2017","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4943-9172","authenticated-orcid":false,"given":"Hazim","family":"Kadhim","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Segers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catheline","family":"Vilain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"D\u00e9sir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicky","family":"D\u2019Haene","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,7,10]]},"reference":[{"volume-title":"Potter\u2019s Pathology of the Fetus, Infant and Child","year":"2007","author":"Barness E. 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Neurology Genetics 2015 1 no. 3 https:\/\/doi.org\/10.1212\/NXG.0000000000000021.","DOI":"10.1212\/NXG.0000000000000021"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.50.3.252"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.4.785"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410330114"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-3101(24)00037-9"},{"key":"e_1_2_8_16_2","doi-asserted-by":"publisher","DOI":"10.1097\/NEN.0000000000000023"}],"container-title":["Case Reports in Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2017\/9523427.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2017\/9523427.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/2017\/9523427","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T23:52:18Z","timestamp":1762473138000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/2017\/9523427"}},"subtitle":[],"editor":[{"given":"Junji","family":"Takaya","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2017,1]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,1]]}},"alternative-id":["10.1155\/2017\/9523427"],"URL":"https:\/\/doi.org\/10.1155\/2017\/9523427","archive":["Portico"],"relation":{},"ISSN":["2090-6803","2090-6811"],"issn-type":[{"type":"print","value":"2090-6803"},{"type":"electronic","value":"2090-6811"}],"subject":[],"published":{"date-parts":[[2017,1]]},"assertion":[{"value":"2017-03-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-06-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-07-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"9523427"}}