以高血压为主要表现的神经纤维瘤病I型1例报告并文献复习

A case of neurofibromatosis type I with hypertension as the main manifestationand literature review

目的了解儿童神经纤维瘤病I型合并高血压的临床特点。方法回顾分析1例以高血压为主要临床表现的神经纤维瘤病I型患儿的临床资料,并复习相关文献。结果 4岁6个月男孩,全身有30余枚牛奶咖啡斑,且合并有顽固性高血压,但无神经纤维瘤、Lisch结节、腋窝雀斑等表现。肾动脉增强MRI发现右肾动脉狭窄合并动脉瘤。基因检测显示患儿NF1基因c.3623del T杂合突变,为新生突变;患儿父母未携带上述突变。诊断为神经纤维瘤病I型。经球囊扩张术治疗后,患儿血压得到良好控制。结论对于仅有皮肤病变的患儿应注意神经纤维瘤病的筛查,注意监测血压,及时干预治疗。

Objective To investigate the clinical characteristics of neurofibromatosis type I（NF1） in children with hypertension. Methods Clinical data of a pediatric patient with NF1 presented mainly with hypertension was retrospectively analyzed, and related literature was reviewed. Results we report a case of uncontrolled persistent hypertension in a 4-yearold child with more than 30 café-au-lait spots. The enhanced MRI of the renal artery showed the right renal artery stenosis and aneurysm. Gene test found a de novo heterozygous c.3623 del T mutation in NF1. At last, he was diagnosed with NF1, but he had no neurofibroma, Lisch nodules, axillary freckles, and other performances of neurofibromatosis. His blood pressure was well controlled after percutaneous transluminal renal angioplasty. Conclusions For children of persistent hypertension with skin lesions only, NF1 should be considered and blood pressure be monitored. Once the vascular lesions were found, intervention should be done timely.