Características clínicas y genéticas de un paciente con síndrome de Noonan y una mutación de novo en el gen MAP2K1: Reporte de caso

Vasti Evelyn  Díaz-Quiquia; Paula Heredia; Nelson Diaz-Reyes; Christoper A. Alarcon-Ruiz

doi:10.35434/rcmhnaaa.2022.153.1347

Authors

Vasti Evelyn Díaz-Quiquia Departamento de Ginecología y Obstetricia, Hospital Nacional Docente Madre Niño San Bartolomé, Lima, Perú; Departamento de Docencia e Investigación, Clínica Good Hope, Lima, Perú.
Paula Heredia Departamento de Docencia e Investigación, Clínica Good Hope, Lima, Perú; Departamento de Diagnostico por Imágenes, Hospital Nacional Dos de Mayo, Lima, Perú.
Nelson Diaz-Reyes Departamento de Docencia e Investigación, Clínica Good Hope, Lima, Perú; Escuela de Medicina, Universidad Peruana Unión, Lima, Perú.
Christoper A. Alarcon-Ruiz IETSI

DOI:

https://doi.org/10.35434/rcmhnaaa.2022.153.1347

Keywords:

Noonan like syndrome, MAP Kinase 1, Heart Septal Defects, Atrial, Cryptorchidism

Abstract

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.

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Author Biographies

Vasti Evelyn Díaz-Quiquia, Departamento de Ginecología y Obstetricia, Hospital Nacional Docente Madre Niño San Bartolomé, Lima, Perú; Departamento de Docencia e Investigación, Clínica Good Hope, Lima, Perú.

Médico cirujano

Paula Heredia, Departamento de Docencia e Investigación, Clínica Good Hope, Lima, Perú; Departamento de Diagnostico por Imágenes, Hospital Nacional Dos de Mayo, Lima, Perú.

Médico cirujano

Nelson Diaz-Reyes, Departamento de Docencia e Investigación, Clínica Good Hope, Lima, Perú; Escuela de Medicina, Universidad Peruana Unión, Lima, Perú.

Médico internista

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