{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T19:51:34Z","timestamp":1759693894956},"reference-count":18,"publisher":"Wiley","issue":"S2","license":[{"start":{"date-parts":[[2008,10,21]],"date-time":"2008-10-21T00:00:00Z","timestamp":1224547200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Niemann\u2013Pick disease type C (NPC) is an autosomal recessive neurovisceral lysosomal lipid storage disorder that leads to variable symptoms that include cognitive decline, ataxia, dystonia, cataplexy, vertical supranuclear gaze palsy, and seizures. Currently, there is no specific treatment for NPC other than palliative care. Substrate reduction therapy represents a potential strategy for treating this debilitating neurodegenerative disorder. Miglustat (Zavesca) is a reversible inhibitor of the enzyme glucosylceramide synthase, which catalyses the first step in the biosynthesis of most glycosphingolipids. Miglustat has pharmacokinetic properties that allow it to cross the blood\u2013brain barrier, thus making it a potential therapeutic agent for treating neurological symptoms in NPC patients. We present here a case report of a Brazilian child treated with miglustat. Before treatment, the patient presented with difficulties walking and swallowing, slurred speech, moderate cognitive impairments, ataxia, ptosis, and vertical supranuclear ophthalmoplegia. On a disability scale, the patient obtained a score of 15 before treatment and 8 after treatment. Following 12 months of treatment, the patient remained stable with improvements in speech, ptosis, ophthalmoplegia, ataxia, hypotonia and seizures. The Child Behavior Checklist (CBCL) was used to assess psychopathological, behavioural and social problems before and after treatment. The CBCL showed that indices for depression #Affective and attention problems were all in the normal range following treatment. Thus, for this individual miglustat was an effective, well\u2010tolerated and efficacious medication for treatment of NPC symptoms. Follow\u2010up maintenance studies are vital to establish whether both the efficacy and safety of miglustat persist with time.<\/jats:p>","DOI":"10.1007\/s10545-008-0923-9","type":"journal-article","created":{"date-parts":[[2008,10,20]],"date-time":"2008-10-20T12:10:13Z","timestamp":1224504613000},"page":"357-361","source":"Crossref","is-referenced-by-count":25,"title":["Treatment of a child diagnosed with Niemann\u2013Pick disease type C with miglustat: A case report in Brazil"],"prefix":"10.1002","volume":"31","author":[{"given":"M. L. F.","family":"Santos","sequence":"first","affiliation":[{"name":"Department of Neuropediatrics Pequeno Pr\u00edncipe Children's Hospital Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Raskin","sequence":"additional","affiliation":[{"name":"Department of Genetics Catholic University of Paran\u00e1 Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. S.","family":"Telles","sequence":"additional","affiliation":[{"name":"Department of Radiology Pequeno Pr\u00edncipe Children's Hospital Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"L\u00f6hr Junior","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Pequeno Pr\u00edncipe Children's Hospital Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. B. N.","family":"Liberalesso","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Pequeno Pr\u00edncipe Children's Hospital Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. C.","family":"Vieira","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics Pequeno Pr\u00edncipe Children's Hospital Curitiba Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. L.","family":"Cordeiro","sequence":"additional","affiliation":[{"name":"Department of Neuropsychopharmacology Pel\u00e9 Pequeno Pr\u00edncipe Research Institute, Instituto de Ensino Superior Pequeno Pr\u00edncipe Av. Silva Jardim 1632 Curitiba PR 80250\u2013200 Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,10,21]]},"reference":[{"key":"e_1_2_6_2_1","volume-title":"Manual for the Child Behavior Checklist\/4\u201018 and 1991 Profile","author":"Achenbach TM","year":"1991"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/pir.21-8-265"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0630-y"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005650930330"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0384-7"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2006.05.054"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2004.05.002"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21779"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.1_Part_1.61"},{"key":"e_1_2_6_11_1","first-page":"3611","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Patterson MC","year":"2001"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(07)70194-1"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)45358-1"},{"issue":"1","key":"e_1_2_6_14_1","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1093\/brain\/awl260","article-title":"The adult form of Niemann\u2013Pick disease type C","volume":"130","author":"Sevin M","year":"2007","journal-title":"Brain"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1080\/00498250601094543"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00147.x"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.3122\/jabfm.2007.05.070062"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2004.08.011"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(01)00396-7"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-0923-9","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-008-0923-9","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-0923-9","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:22:49Z","timestamp":1694751769000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-008-0923-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,10,21]]},"references-count":18,"journal-issue":{"issue":"S2","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["10.1007\/s10545-008-0923-9"],"URL":"https:\/\/doi.org\/10.1007\/s10545-008-0923-9","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,10,21]]}}}