{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T02:17:54Z","timestamp":1791944274833,"version":"4.3.4"},"reference-count":22,"publisher":"SAGE Publications","issue":"8","license":[{"start":{"date-parts":[[2008,8,1]],"date-time":"2008-08-01T00:00:00Z","timestamp":1217548800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2008,8]]},"abstract":"<jats:p>Griscelli syndrome is a rare autosomal recessive disorder. It is characterized by pigment dilution and variable immune deficiency leading to increased susceptibility to certain infections and a tendency to develop a life-threatening hemophagocytic syndrome known as the accelerated phase. Griscelli syndrome is now classified into 3 types based on the genetic and molecular features. Primary neurological presentation without the accelerated phase is rare in type 2. In this article, the authors report a boy who was presented with seizures and diffuse white matter involvement unaccompanied by the other features of the accelerated phase. Mutation analysis in family members revealed the presence of a missense mutation in Rab27a gene. In addition to the rare presentation, this is the first case of Griscelli syndrome to be reported from Jordan.<\/jats:p>","DOI":"10.1177\/0883073808315409","type":"journal-article","created":{"date-parts":[[2008,4,10]],"date-time":"2008-04-10T21:10:00Z","timestamp":1207861800000},"page":"964-967","source":"Crossref","is-referenced-by-count":26,"title":["Griscelli Syndrome Type 2: A Rare and Lethal Disorder"],"prefix":"10.1177","volume":"23","author":[{"given":"Amira","family":"Masri","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of child Neurology, Jordan University Hospital,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Faris G.","family":"Bakri","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Infectious Diseases, Jordan University Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maissa","family":"Al-Hussaini","sequence":"additional","affiliation":[{"name":"Department of Pathology, The National Center for Diabetes, Endocrinology, and Gentics Amman"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azmy","family":"Al-Hadidy","sequence":"additional","affiliation":[{"name":"Department of Radiology, Jordan University Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rania","family":"Hirzallah","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Jordan University Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevi\u00e8ve","family":"de Saint Basile","sequence":"additional","affiliation":[{"name":"Lab. d'Immuno-H\u00e9matologie P\u00e9diatrique, H\u00f4pital Necker-Enfants Malades, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanan","family":"Hamamy","sequence":"additional","affiliation":[{"name":"King Hussein Cancer Center, The National Center for Diabetes, Endocrinology, and Genetics Amman, Jordan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2008,8,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(78)90858-6"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82003-7"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1007\/s004150070162"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-289"},{"key":"atypb5","first-page":"1100","volume":"115","author":"Menasche G.","year":"2005","journal-title":"[Erratum: J Clin Invest"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-09-2789"},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1172\/JCI0215058"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1086\/341606"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2006.09.007"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10836"},{"key":"atypb11","first-page":"387","volume":"13","author":"Brismar J.","year":"1992","journal-title":"AJNR Am J Neuroradiol"},{"key":"atypb12","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.135.2.182"},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1007\/BF01955897"},{"key":"atypb14","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-002-0752-1"},{"key":"atypb15","doi-asserted-by":"publisher","DOI":"10.1023\/A:1016045026204"},{"key":"atypb16","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-01-0319"},{"key":"atypb17","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8257(200007)15:4<705::AID-MDS1016>3.0.CO;2-B"},{"key":"atypb18","doi-asserted-by":"publisher","DOI":"10.1007\/BF02015453"},{"key":"atypb19","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2006.07.005"},{"key":"atypb20","doi-asserted-by":"publisher","DOI":"10.1007\/BF00917914"},{"key":"atypb21","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1702007"},{"key":"atypb22","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-006-0258-1"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073808315409","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0883073808315409","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:35:34Z","timestamp":1777494934000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0883073808315409"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,8]]},"references-count":22,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2008,8]]}},"alternative-id":["10.1177\/0883073808315409"],"URL":"https:\/\/doi.org\/10.1177\/0883073808315409","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,8]]}}}