Resumo

DIAZ-QUIQUIA, Vasti Evelyn; HEREDIA, Paula; DIAZ-REYES, Nelson  e  ALARCON-RUIZ, Christoper A.. Clinical and genetic features of a Noonan syndrome with a de novo MAP2K1 mutation: A case report. Rev. Cuerpo Med. HNAAA [online]. 2022, vol.15, n.3, pp.450-455.  Epub 30-Set-2022. ISSN 2225-5109.  http://dx.doi.org/10.35434/rcmhnaaa.2022.153.1347.

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.

Palavras-chave : Noonan like syndrome; MAP Kinase 1; Heart Septal Defects, Atrial; Cryptorchidism.

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