Neurofibromatosis-Noonan Syndrome With Primary Amenorrhoea: A Case Report.
| Autor: | Mohapatra I; Obstetrics and Gynecology, All India Institute of Medical Sciences, Kalyani, Kalyani, IND., Samantaray SR; Obstetrics and Gynecology, Prathima Institute of Medical Science, Karimnagar, IND. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2023 Jul 18; Vol. 15 (7), pp. e42098. Date of Electronic Publication: 2023 Jul 18 (Print Publication: 2023). |
| DOI: | 10.7759/cureus.42098 |
| Abstrakt: | 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. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2023, Mohapatra et al.) |
| Databáze: | MEDLINE |
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