{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:22:11Z","timestamp":1747149731276,"version":"3.40.5"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,1,7]],"date-time":"2023-01-07T00:00:00Z","timestamp":1673049600000},"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":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a unique case of an infant with a severe dilated cardiomyopathy as the clinical presentation of sialidosis type II (OMIM 256550), a rare autosomal recessive inherited lysosomal storage disease that is characterized by partial or complete deficiency of \u03b1\u2010neuraminidase, following mutations in the gene neuraminidase 1 (<jats:italic>NEU1<\/jats:italic>), located on the short arm of chromosome 6 (6p21.3). Accumulation of metabolic intermediates leads to severe morbidity, especially myoclonus, gait disturbances, cherry\u2010red macules with secondary loss of visual acuity, impaired color vision and night blindness, and sometimes additional neurological findings such as seizures. Dilated cardiomyopathies are characterized by dilation and impaired contraction of the left or both ventricles, whereas most of the metabolic cardiomyopathies are hypertrophic forms appearing with diastolic dysfunction and, in case of lysosomal storage diseases, often associated with valvular thickening and prolapse. Cardiac manifestations in systemic storage disorders are common although rarely described in mucolipidoses. In mucolipidosis type 2 or I\u2010cell disease only three cases were presented with severe dilated cardiomyopathy and endocardial fibroelastosis in infancy, as opposed to sialidosis type II, by which to the best of our knowledge no presentation of dilated cardiomyopathy was previously reported in literature.<\/jats:p>","DOI":"10.1002\/jmd2.12357","type":"journal-article","created":{"date-parts":[[2023,1,7]],"date-time":"2023-01-07T08:40:33Z","timestamp":1673080833000},"page":"156-160","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II"],"prefix":"10.1002","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8051-8202","authenticated-orcid":false,"given":"Margot","family":"Eyskens","sequence":"first","affiliation":[{"name":"Department of Paediatrics University of Antwerp  Antwerp Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luc","family":"Bruyndonckx","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Antwerp  Antwerp Belgium"},{"name":"Cardiology, Department of Paediatrics University Hospital Antwerp  Antwerp Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9 B. P.","family":"Van Kuilenburg","sequence":"additional","affiliation":[{"name":"Laboratory Genetic Metabolic Diseases, Gastroenterology and Metabolism, Department of Clinical Chemistry Amsterdam University Medical Centers  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fran\u00e7ois","family":"Eyskens","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Antwerp  Antwerp Belgium"},{"name":"Inherited Metabolic Diseases, Department of Paediatrics University Hospital Antwerp  Antwerp Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,1,7]]},"reference":[{"key":"e_1_2_12_2_1","first-page":"6","volume-title":"Book Rare Disease Database: Sialidosis","author":"NORD","year":"2016"},{"key":"e_1_2_12_3_1","first-page":"371","volume-title":"Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease","author":"Rosenberg RN","year":"2008"},{"key":"e_1_2_12_4_1","unstructured":"KniffinA.Neuraminidase deficiency.2014. Accessed August 15 2022.https:\/\/omim.org\/entry\/256550"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(79)90221-3"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(03)00005-2"},{"key":"e_1_2_12_7_1","first-page":"4","volume-title":"Metabolic Cardiomyopathy","author":"Mall G","year":"2004"},{"key":"e_1_2_12_8_1","first-page":"1","article-title":"Severe dilated cardiomyopathy as an unusual finding in a young infant with mucolipidosis type 2","volume":"8","author":"Mueller P","year":"2006","journal-title":"Images Paediatr Cardiol"},{"key":"e_1_2_12_9_1","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1017\/9781107323704.031","volume-title":"Progressive Brain Disorders in Childhood","author":"Pascual JM","year":"2017"},{"key":"e_1_2_12_10_1","first-page":"71","article-title":"Dilated cardiomyopathy in mucolipidosis type 2","volume":"34","author":"Carboni E","year":"2020","journal-title":"J Biol Regul Homeost Agents"},{"key":"e_1_2_12_11_1","first-page":"708","article-title":"Mucolipidosis type II (I\u2010cell disease) with unusually severe heart involvement","volume":"135","author":"Schulz R","year":"1987","journal-title":"Monatsschr Kinderheilkd"},{"key":"e_1_2_12_12_1","first-page":"3811","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"d'Azzo A","year":"2001"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12357","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jmd2.12357","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12357","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T22:57:28Z","timestamp":1692313048000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.12357"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,7]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["10.1002\/jmd2.12357"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.12357","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"type":"print","value":"2192-8312"},{"type":"electronic","value":"2192-8312"}],"subject":[],"published":{"date-parts":[[2023,1,7]]},"assertion":[{"value":"2022-09-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-01-07","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}