{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T07:05:56Z","timestamp":1791356756848,"version":"4.3.1"},"reference-count":31,"publisher":"Cambridge University Press (CUP)","issue":"2","license":[{"start":{"date-parts":[[2014,12,2]],"date-time":"2014-12-02T00:00:00Z","timestamp":1417478400000},"content-version":"unspecified","delay-in-days":3502,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. j. neurol. sci."],"published-print":{"date-parts":[[2005,5]]},"abstract":"<jats:title>ABSTRACT:<\/jats:title><jats:sec id=\"S0317167100004017_abs1\"><jats:title>Background:<\/jats:title><jats:p>To date, few pediatric series of neurofibromatosis type 1 (NF-1) have been described in the literature even though it is the most frequently encountered phakomatosis.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100004017_abs2\"><jats:title>Methods:<\/jats:title><jats:p>We reviewed 987 charts of pediatric patients with a presumptive diagnosis of NF-1 who were evaluated at Ste-Justine hospital from January 1, 1991 to July 31, 2002. Patients who presented with two or more cardinal criteria were diagnosed with NF-1. Clinical and laboratory data were retrospectively collected, including: demographics, neuroimaging and presence or absence of associated symptoms or signs of NF-1.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100004017_abs3\"><jats:title>Results:<\/jats:title><jats:p>A total of 279 patients were diagnosed with NF-1. The mean age at diagnosis was 3.4 years. Ninety-nine percent of the patients had caf\u00e9 au lait spots and 47% had a first degree relative with NF-1. Almost 60 percent (59.6%) of those seen by an ophthalmologist had Lisch nodules. Optic glioma was found in in 14.7%, cutaneous neurofibromas in 38.4%, plexiform neurofibromas in 24.7%, neurofibrosarcoma in 1.8%, learning disabilities in 39%, attention deficit disorder in 40.5%, osseous dysplasias in 7.2%, pseudoarthrosis in 3.6%, precocious puberty in 3.2% and short stature in 17.9%. Magnetic resonance, when performed, showed hyperintense T2 lesions in 87.1% of cases. The mean period of follow-up was 7.4 years.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100004017_abs4\"><jats:title>Conclusion:<\/jats:title><jats:p>Neurofibromatosis type 1 is a multisystemic disorder associated with increased risk of malignancy. It can be diagnosed at a very young age and clinical follow-up is advised. To our knowledge, this is the largest single center study of NF-1 in a pediatric population.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s0317167100004017","type":"journal-article","created":{"date-parts":[[2014,12,12]],"date-time":"2014-12-12T15:33:05Z","timestamp":1418398385000},"page":"225-231","source":"Crossref","is-referenced-by-count":69,"title":["Neurofibromatosis Type 1 in a Pediatric Population: Ste-Justine's Experience"],"prefix":"10.1017","volume":"32","author":[{"given":"J.M.","family":"Boulanger","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Larbrisseau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2014,12,2]]},"reference":[{"key":"S0317167100004017_ref030","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(98)00075-7"},{"key":"S0317167100004017_ref028","doi-asserted-by":"publisher","DOI":"10.1007\/s004679900260"},{"key":"S0317167100004017_ref027","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.48.4.1121"},{"key":"S0317167100004017_ref026","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.46.6.1660"},{"key":"S0317167100004017_ref025","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.59.6.638"},{"key":"S0317167100004017_ref024","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000055090.78351.C1"},{"key":"S0317167100004017_ref023","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000098881.95854.5F"},{"key":"S0317167100004017_ref022","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.5.878"},{"key":"S0317167100004017_ref020","doi-asserted-by":"publisher","DOI":"10.1038\/nature711"},{"key":"S0317167100004017_ref019","doi-asserted-by":"publisher","DOI":"10.1076\/chin.6.3.185.3155"},{"key":"S0317167100004017_ref018","first-page":"612","article-title":"Plexiform 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