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目的对于临床具有血管畸形且疑似NF1的患者,应用基因检测方法进行诊断与鉴别诊断。方法患儿10岁,右小腿皮肤散在红斑、增粗1年,无明显边界。CT提示网状毛细血管以及浅静脉血管分支增多增粗,疑似静脉畸形。躯干四肢散在多发的牛奶咖啡斑,直径大于1.5 cm,数量超过6个,仅该项符合NIH关于NF1的诊断临床表现,其余症状皆不典型,无法确诊NF1。遂尝试进行NF1基因检测。结果 NF1的DNA测序发现无义突变,c.C4006C>T,p.Gln 1336*(杂合),支持NF1的诊断。结论临床表现不典型的患者,无法依据NIH标准确诊时,可进行NF1基因检测,帮助临床诊断。
Objective To diagnose and differentiate patients suspected of having NF1 in clinical vascular deformity by gene detection. Methods Children 10 years old, the right calf skin scattered erythema, thickening 1 year, no obvious border. CT tips Mesh capillaries and superficial femoral vein branches increased thickening, suspected venous malformations. Trunk limbs scattered in multiple milk coffee spots, diameter greater than 1.5 cm, the number of more than 6, the only line with NIH clinical manifestations of NF1 diagnosis, the remaining symptoms are not typical, can not be diagnosed NF1. Then try to NF1 gene test. Results NFl DNA sequencing found a nonsense mutation, c.C4006C> T, p.Gln 1336 * (heterozygous), supporting the diagnosis of NFl. Conclusions Patients with atypical clinical manifestations can not detect NF1 when they can not be diagnosed according to the NIH standard, so as to help clinical diagnosis.