Clinical and genetic features of a Noonan syndrome with a de novo MAP2K1 mutation: A case report

• Autores: Díaz-Quiquia, Vasti Evelyn, Heredia, Paula, Diaz-Reyes, Nelson, Alarcon-Ruiz, Christoper A.
• Formato: artículo
• Fecha de Publicación: 2022
• Institución: Cuerpo Médico Hospital Nacional Almanzor Aguinaga Asenjo
• Repositorio: Revista del Cuerpo Médico Hospital Nacional Almanzor Aguinaga Asenjo
• Lenguaje: español
• OAI Identifier: oai:cmhnaaa_ojs_cmhnaaa.cmhnaaa.org.pe:article/1347
• Enlace del recurso: https://cmhnaaa.org.pe/ojs/index.php/rcmhnaaa/article/view/1347
• Nivel de acceso: acceso abierto
• Materia: Síndrome de Noonan like; MAP quinasa 1; Defectos del Tabique Interatrial; Criptorquidia; Noonan like syndrome; MAP Kinase 1; Heart Septal Defects, Atrial; Cryptorchidism

Background: Noonan syndrome is a genetic disorder mostly related to PTPN11 gene mutation. Report Case: Newborn male of 34 weeks of gestational age with obstetric ultrasounds showing cystic hygroma, bilateral renal hydronephrosis, and polyhydramnios. At born, he presented nuchal edema, wide nose, low-set ears, and right cryptorchidism. Additionally, he presented atrial septum defect, absence of inferior vena cava, mild pulmonary hypertension, persistent ductus arteriosus, and respiratory distress. The result of the 14-gene panel analysis showed a MAP2K1 gene mutation and a variation of uncertain significance in the CBL gene, confirming the diagnosis of PTPN11-negative Noonan syndrome. During the follow-up, he was additionally diagnosed with blepharoptosis of left eye and gastroesophageal reflux disease. Conclusion: This report highlights the wide variety of phenotypical characteristics in a Noonan syndrome patient, which was suspected upon birth and developed during the follow-up.