{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T16:17:27Z","timestamp":1764260247152,"version":"3.40.5"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,6,3]],"date-time":"2022-06-03T00:00:00Z","timestamp":1654214400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sialidosis is a rare autosomal\u2010recessive lysosomal storage disease due to mutations in the <jats:italic>NEU1<\/jats:italic> gene leading to a deficit of alpha\u2010n\u2010acetyl neuraminidase and causing aberrant accumulation of sialylated glycoproteins\/peptides and oligosaccharides in the lysosomes of various organs and tissues. Type II sialidosis (dysmorphic form) is classified into three subgroups based on the age of onset and the clinical severity: Congenital or neonatal, infantile (onset 0\u201312\u2009months) and juvenile form (onset 13\u2009months\u201320\u2009years). We report the case of a 3\u2010year\u2010old boy with sialidosis type II infantile form, who developed a voluminous ascites. To the best of our knowledge, ascites is not described in the infantile form but in the congenital form of the disease. Ascites seems to be of a multifactorial origin regarding our investigations: on the one hand, portal hypertension and on the other hypoalbuminemia maintained by proteinuria secondary to nephrosialidosis. Loss of plasma proteins in the gastrointestinal tract (protein\u2010losing enteropathy) should also be considered in the case of portal hypertension and damages of the reticuloendothelial system.<\/jats:p>","DOI":"10.1002\/jmd2.12305","type":"journal-article","created":{"date-parts":[[2022,6,4]],"date-time":"2022-06-04T06:39:35Z","timestamp":1654324775000},"page":"316-321","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Ascites in infantile onset type <scp>II<\/scp> Sialidosis"],"prefix":"10.1002","volume":"63","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6792-6161","authenticated-orcid":false,"given":"Kaoutar","family":"Tazi","sequence":"first","affiliation":[{"name":"Paediatric Department H\u00f4pital Universitaire des Enfants Reine Fabiola, Universit\u00e9 Libre de Bruxelles  Avenue Jean Joseph Crocq 15, 1020 Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vanessa","family":"Guy\u2010Viterbo","sequence":"additional","affiliation":[{"name":"Pediatric Intensive Care Unit H\u00f4pital Universitaire des Enfants Reine Fabiola, Universit\u00e9 Libre de Bruxelles  Avenue Jean Joseph Crocq 15, 1020 Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexander","family":"Gheldof","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel  Avenue du Laerbeek 101, 1090 Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aur\u00e9lie","family":"Empain","sequence":"additional","affiliation":[{"name":"Nutrition and Metabolic Unit H\u00f4pital Universitaire des Enfants Reine Fabiola, Universit\u00e9 Libre de Bruxelles  Avenue Jean Joseph Crocq 15, 1020 Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Paternoster","sequence":"additional","affiliation":[{"name":"Paediatric Department Centre Hospitalier EpiCURA  Route de Mons 63, 7301 Hornu Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corinne","family":"De Laet","sequence":"additional","affiliation":[{"name":"Nutrition and Metabolic Unit H\u00f4pital Universitaire des Enfants Reine Fabiola, Universit\u00e9 Libre de Bruxelles  Avenue Jean Joseph Crocq 15, 1020 Brussels Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,6,3]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ekir.2018.07.015"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10710"},{"issue":"1","key":"e_1_2_12_4_1","first-page":"1","article-title":"Sialidosis: a review of human neuraminidase 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