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首页> 外文期刊>The Canadian Journal of Neurological Sciences: le Journal Canadien des Sciences Neurologiques >Neurofibromatosis type 1 in a pediatric population: Ste-Justine's experience.
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Neurofibromatosis type 1 in a pediatric population: Ste-Justine's experience.

机译：小儿人群1型神经纤维瘤病：Ste-Justine的经验。

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BACKGROUND: 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. METHODS: 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. RESULTS: 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 cafe 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. CONCLUSION: 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.
机译：背景：迄今为止，文献中很少描述1型儿科神经纤维瘤病（NF-1），尽管它是最常发生的白眼病。方法：我们回顾了1991年1月1日至2002年7月31日在Ste-Justine医院接受评估的987例诊断为NF-1的儿科患者的图表。具有两个或多个基本标准的患者被诊断为NF- 1。回顾性收集临床和实验室数据，包括：人口统计学，神经影像学以及是否存在相关的NF-1症状或体征。结果：共有279例患者被诊断出NF-1。诊断时的平均年龄为3.4岁。百分之九十九的患者有咖啡色斑点，百分之四十七的患者具有与NF-1相关的一级学位。眼科医生所见的近60％（59.6％）患有Lisch结节。视神经胶质瘤占14.7％，皮肤神经纤维瘤占38.4％，丛状神经纤维瘤占24.7％，神经纤维肉瘤占1.8％，学习障碍占39％，注意力缺陷障碍占40.5％，骨发育不良占7.2％，假性骨关节炎占3.6％，性早熟占3.2％，身材矮小占17.9％。进行磁共振检查时，在87.1％的病例中显示高强度T2病变。平均随访时间为7。4年。结论：1型神经纤维瘤病是一种多系统疾病，与恶性肿瘤风险增加相关。可以在很小的时候就诊断出来，并建议进行临床随访。据我们所知，这是儿科人群中最大的NF-1单中心研究。

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