{Reference Type}: Case Reports
{Title}: Neurofibromatosis-Noonan Syndrome With Primary Amenorrhoea: A Case Report.
{Author}: Mohapatra I;Samantaray SR;
{Journal}: Cureus
{Volume}: 15
{Issue}: 7
{Year}: 2023 Jul
暂无{DOI}: 10.7759/cureus.42098
{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.