PDF(Pubmed)
Abstract：
Neurofibromatosis-Noonan syndrome is a rare RASopathy syndrome. It occurs due to the mutation in the NF1 gene and the patients present with the phenotypic features of both Neurofibromatosis and Noonan syndrome. Here a case of an early adolescent girl is described who presented with the chief complaint of primary amenorrhoea and on evaluation was diagnosed to be a patient of Neurofibromatosis-Noonan syndrome. The index case was short-statured with a short and broad neck. Physical examination revealed a pointed pinna, hypertelorism, telecanthus, characteristic facies, and multiple freckles all over the body. She also had numerous atypical café-au-lait spots. Whole genome sequencing revealed Neurofibromatosis-Noonan syndrome which was likely a pathogenic variant causative of the typical phenotype present with a mutation in the neurofibromin gene (NF1) on chromosome 17q11. We discuss here the management and follow-up of the case.
摘要：
神经纤维瘤病-努南综合征是一种罕见的放射病综合征。它是由于NF1基因的突变以及患者同时具有神经纤维瘤病和Noonan综合征的表型特征而发生的。在此描述了一个早期青春期女孩的病例，该女孩以原发性闭经为主要主诉，经评估被诊断为神经纤维瘤病-努南综合征患者。索引病例短，脖子短而宽。体格检查显示有尖锐的耳廓，超端粒,telechanthus,特征相,全身有多处雀斑.她也有许多非典型的咖啡馆。全基因组测序显示神经纤维瘤病-努南综合征，这可能是典型表型的致病变异，在染色体17q11上存在神经纤维蛋白基因（NF1）突变。我们在这里讨论案件的管理和后续行动。
