{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T18:35:35Z","timestamp":1764873335222},"reference-count":17,"publisher":"Cambridge University Press (CUP)","issue":"5","license":[{"start":{"date-parts":[[2014,10,30]],"date-time":"2014-10-30T00:00:00Z","timestamp":1414627200000},"content-version":"unspecified","delay-in-days":59,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. J. Neurol. Sci."],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec id=\"S0317167114000122_abs1\" sec-type=\"general\"><jats:title>Background<\/jats:title><jats:p>Multiple sulfatase deficiency (MSD) is a rare autosomal recessive inborn error of lysosomal metabolism. The clinical phenotypic spectrum encompasses overlapping features of variable severity and is suggestive of individual single sulfatase deficiencies (i.e., metachromatic leukodystrophy, mucopolysaccharidosis, and X-linked ichthyosis).<\/jats:p><\/jats:sec><jats:sec id=\"S0317167114000122_abs2\" sec-type=\"general\"><jats:title>Case Report<\/jats:title><jats:p>We describe a 3-year-old male with severe hypotonia, developmental regression and progressive neurodegeneration, coarse facial features, nystagmus (from ocular albinism), and dysmyelinating motor sensory neuropathy. Ethics approval was obtained from the Western University Ontario.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167114000122_abs3\" sec-type=\"results\"><jats:title>Results<\/jats:title><jats:p>Extensive investigative work-up identified deficiencies of multiple sulfatases: heparan sulfate sulfamidase: 6.5 nmoles\/mg\/protein\/17 hour (reference 25.0-75.0), iduronate-2-sulfate sulfatase: 9 nmol\/mg\/protein\/4 hour (reference 31-110), and arylsulfatase A: 3.8 nmoles\/hr\/mg protein (reference 22-50). The identification of compound heterozygous pathogenic mutations in the <jats:italic>SUMF1<\/jats:italic> gene c.836 C&gt;T (p.A279V) and c.1045C&gt;T (p.R349W) confirmed the diagnosis of MSD.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167114000122_abs4\" sec-type=\"conclusion\"><jats:title>Conclusion<\/jats:title><jats:p>The complex clinical manifestations of MSD and the unrelated coexistence of ocular albinism as in our case can delay diagnosis. Genetic counselling should be provided to all affected families.<\/jats:p><\/jats:sec>","DOI":"10.1017\/cjn.2014.12","type":"journal-article","created":{"date-parts":[[2014,10,31]],"date-time":"2014-10-31T11:59:58Z","timestamp":1414756798000},"page":"626-631","source":"Crossref","is-referenced-by-count":9,"title":["Case of Multiple Sulfatase Deficiency and Ocular Albinism: A Diagnostic Odyssey"],"prefix":"10.1017","volume":"41","author":[{"given":"Chitra","family":"Prasad","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C. Anthony","family":"Rupar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Craig","family":"Campbell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melanie","family":"Napier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Ramsay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.Y.","family":"Tay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sapna","family":"Sharan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asuri N.","family":"Prasad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2014,10,30]]},"reference":[{"key":"S0317167114000122_ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-008-0871-2"},{"key":"S0317167114000122_ref1","first-page":"3725","volume-title":"The metabolic and molecular bases of inherited Diseases","author":"Scriver","year":"2001"},{"key":"S0317167114000122_ref8","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn161"},{"key":"S0317167114000122_ref17","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9515"},{"key":"S0317167114000122_ref9","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00348-9"},{"key":"S0317167114000122_ref6","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9504"},{"key":"S0317167114000122_ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2005.03.001"},{"key":"S0317167114000122_ref5","doi-asserted-by":"publisher","DOI":"10.1159\/000469216"},{"key":"S0317167114000122_ref3","doi-asserted-by":"publisher","DOI":"10.1046\/j.1525-1470.2001.01959.x"},{"key":"S0317167114000122_ref10","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.219"},{"key":"S0317167114000122_ref14","doi-asserted-by":"publisher","DOI":"10.1177\/088307389100600304"},{"key":"S0317167114000122_ref12","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.291"},{"key":"S0317167114000122_ref2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1973.00490220066010"},{"key":"S0317167114000122_ref15","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-1032"},{"key":"S0317167114000122_ref16","doi-asserted-by":"publisher","DOI":"10.1055\/s-2001-12213"},{"key":"S0317167114000122_ref7","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00347-7"},{"key":"S0317167114000122_ref13","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(98)00073-3"}],"container-title":["Canadian Journal of Neurological Sciences \/ Journal Canadien des Sciences Neurologiques"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0317167114000122","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,21]],"date-time":"2019-04-21T21:19:48Z","timestamp":1555881588000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0317167114000122\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9]]},"references-count":17,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["S0317167114000122"],"URL":"https:\/\/doi.org\/10.1017\/cjn.2014.12","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"value":"0317-1671","type":"print"},{"value":"2057-0155","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9]]}}}