{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,3]],"date-time":"2025-12-03T03:27:05Z","timestamp":1764732425372},"reference-count":29,"publisher":"Wiley","issue":"S3","license":[{"start":{"date-parts":[[2010,1,6]],"date-time":"2010-01-06T00:00:00Z","timestamp":1262736000000},"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":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mucopolysaccharidosis type II (MPS\u2010II, Hunter disease) is a X\u2010linked recessive disorder. Affected females are extremely rare, mostly due to skewed X chromosome inactivation. A few papers outline MPS\u2010II brain magnetic resonance imaging (MRI) \u201cgestalt\u201d in males, but neuroradiological reports on females are still lacking. We present an 11\u2010year\u2010old girl affected by the severe form of MPS\u2010II who was followed up over a time span of 8 years, focusing on clinical and brain MRI evolution. In the last 2.5 years, the patient has been treated with enzyme replacement therapy (ERT) with idursulfase (Elaprase\u2122, Shire Human Genetic Therapies AB, Sweden). On brain and cervical MRI examination, abnormalities in our patient did not differ from those detected in male patients: J\u2010shaped pituitary sella, enlargement of perivascular spaces, brain atrophy, mild T2\u2010hyperintensity in the paratrigonal white matter, diffuse platyspondylia, and mild odontoid dysplasia with odontoid cup. Brain atrophy progressed despite ERT introduction, whereas perivascular space enlargement did not change significantly before and after ERT. Cognitive impairment worsened independently from the course of white matter abnormality. Despite a profound knowledge of genetic and biochemical aspects in MPS\u2010II, neuroradiology is still poorly characterized, especially in female patients. Spinal and brain involvement and its natural course and evolution after ERT introduction still need to be clarified.<\/jats:p>","DOI":"10.1007\/s10545-009-9023-8","type":"journal-article","created":{"date-parts":[[2010,1,5]],"date-time":"2010-01-05T07:36:09Z","timestamp":1262676969000},"page":"67-72","source":"Crossref","is-referenced-by-count":16,"title":["Hunter syndrome in an 11\u2010year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution"],"prefix":"10.1002","volume":"33","author":[{"given":"Renzo","family":"Manara","sequence":"first","affiliation":[{"name":"Neuroradiologic Unit University Hospital of Padova Via Giustiniani 2 Padova 35128 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelica","family":"Rampazzo","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Centre for Rare Diseases University of Padova Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mara","family":"Cananzi","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Centre for Rare Diseases University of Padova Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leonardo","family":"Salviati","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Centre for Rare Diseases University of Padova Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodica","family":"Mardari","sequence":"additional","affiliation":[{"name":"Neuroradiologic Unit University Hospital of Padova Via Giustiniani 2 Padova 35128 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Drigo","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Centre for Rare Diseases University of Padova Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosella","family":"Tomanin","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Centre for Rare Diseases University of Padova Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicoletta","family":"Gasparotto","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Centre for Rare Diseases University of Padova Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Priante","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Centre for Rare Diseases University of Padova Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Scarpa","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Centre for Rare Diseases University of Padova Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,1,6]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-196504000-00010"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1986.tb01896.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200213"},{"key":"e_1_2_5_5_1","first-page":"289","article-title":"Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl","volume":"49","author":"Clarke JT","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03519.x"},{"key":"e_1_2_5_7_1","first-page":"316","article-title":"Characterization of a deletion at Xq27\u2013q28 associated with unbalanced inactivation of the nonmutant X chromosome","volume":"51","author":"Clarke JT","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.10.e29"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2008.00646.x"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20515"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005570410851"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj1150034P"},{"key":"e_1_2_5_13_1","first-page":"1285","article-title":"The mucopolysaccharidoses: characterization by cranial MR imaging","volume":"14","author":"Lee C","year":"1993","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-1350"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.600412.x"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.58.11.911"},{"key":"e_1_2_5_17_1","first-page":"3421","volume-title":"The metabolic and molecular basis of inherited disease","author":"Neufeld FN","year":"2001"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2007.00212.x"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.1098"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00607284"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.4.493"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)10:5<361::AID-HUMU5>3.0.CO;2-I"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1998.tb02654.x"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.3.479"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2004.10.009"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:4<338::AID-HUMU15>3.0.CO;2-3"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000269782.80107.fe"},{"key":"e_1_2_5_28_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A0510"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440625"},{"key":"e_1_2_5_30_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.19.6.408"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-9023-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T06:23:33Z","timestamp":1694759013000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-009-9023-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1,6]]},"references-count":29,"journal-issue":{"issue":"S3","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["10.1007\/s10545-009-9023-8"],"URL":"https:\/\/doi.org\/10.1007\/s10545-009-9023-8","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,1,6]]}}}