PDF(Pubmed)
Abstract：
Neurofibromatosis type 1 (NF-1) is the most common neurocutaneous syndrome. It is inherited in an autosomal dominant manner, with many patients having the syndrome as the result of a de novo mutation. NF-1 is caused by a mutation in the NF-1 gene located on the chromosome 17q11.2. NF-1 gene mutations result in the absence or reduced function of neurofibromin protein, thereby promoting tumor development and other clinical findings. NF-1 is fully penetrant, and it is commonly manifested by café-au-lait macules, axillary and/or inguinal freckling, neurofibromas, and Lisch nodules in the eyes. Skeletal manifestations include scoliosis, short stature, long bone dysplasia, and pseudoarthrosis. Rarely, NF-1 can manifest lambdoid suture defects. This report describes the case of a 12-year-old neurofibromatosis patient who presented to the pediatric clinic with a palpable posterior scalp defect, as well as café-au-lait macules and Lisch nodules. Diagnosis of NF-1 was made clinically. MRI and CT scan were done, and the patient was diagnosed with a lambdoid suture defect that is not associated with plexiform neurofibroma. Moreover, whole exome sequence (WES) was done, and diagnosis of NF-1 was confirmed. Watchful waiting and continuous monitoring were the management of choice for this case.
摘要：
1型神经纤维瘤病（NF-1）是最常见的神经皮肤综合征。它以常染色体显性遗传，许多患者由于从头突变而患有该综合征。NF-1是由位于染色体17q11.2上的NF-1基因突变引起的。NF-1基因突变导致神经纤维蛋白的缺失或功能降低，从而促进肿瘤的发展和其他临床发现。NF-1是全渗透剂,它通常表现为咖啡壶斑，腋窝和/或腹股沟雀斑，神经纤维瘤,和眼睛里的Lisch结节.骨骼表现包括脊柱侧弯，身材矮小,长骨发育不良,和假关节炎。很少,NF-1可表现为Lambdoid缝合缺损。该报告描述了一名12岁的神经纤维瘤病患者的病例，该患者出现了明显的头皮后部缺损，以及咖啡色斑和Lisch结节。临床诊断为NF-1。做了MRI和CT扫描,患者被诊断为与丛状神经纤维瘤无关的Lambdoid缝合缺损。此外，完成了整个外显子组序列（WES），并确诊为NF-1。观察等待和持续监测是这种情况下的管理选择。
