North K
Department of Neurology, Children's Hospital, Camperdown, Sydney, Australia.
J Child Neurol. 1993 Oct;8(4):395-402. doi: 10.1177/088307389300800421.
Neurofibromatosis type 1 is a common multisystem disorder, best managed in a multidisciplinary clinic. In 1991, the first Australian neurofibromatosis clinic was established at the Children's Hospital, Camperdown, and the clinical characteristics of the first 150 families are reviewed. Two hundred individuals were assessed; there was an equal sex distribution, and 55% of cases were sporadic. Advanced paternal age appeared to predispose to new mutations in the neurofibromatosis gene. Café-au-lait spots and axillary freckling were important to the diagnosis of neurofibromatosis type 1 during childhood, and neurofibromas and Lisch nodules, although often not appearing until after puberty, were present in almost all patients over 30 years of age. Short stature (27%), macrocephaly (43%), scoliosis (20.5%), and learning disabilities (45%) were common associated features. The prevalence of disease complications was similar to the major US and European studies.
1型神经纤维瘤病是一种常见的多系统疾病，最好在多学科诊所进行管理。1991年，澳大利亚第一家神经纤维瘤病诊所于坎珀当儿童医院成立，本文回顾了首批150个家庭的临床特征。共评估了200名个体；男女分布均衡，55%的病例为散发性。父亲年龄较大似乎易引发神经纤维瘤病基因的新突变。咖啡牛奶斑和腋窝雀斑对儿童期1型神经纤维瘤病的诊断很重要，神经纤维瘤和虹膜错构瘤虽然通常在青春期后才出现，但几乎所有30岁以上的患者都有。身材矮小（27%）、巨头症（43%）、脊柱侧弯（20.5%）和学习障碍（45%）是常见的相关特征。疾病并发症的发生率与美国和欧洲的主要研究相似。
