Gutiérrez GJ, Mijares MM

Language: Spanish
References: 25
Page: 92-96
PDF size: 54.24 Kb.

ABSTRACT

Introduction: Deletion of 22q11 represents the most common microdeletion in humans, with a variety of phenotype presentations, including DiGeorge Syndrome. According to the clinical characteristics they are distinguished by a peculiar fascies and by embrionary anomalies involving organs from the third and fourth pharyngeal pouches, with a high incidence of heart anomalies. Case report: Female 3 years old, who has an 8-year-old brother with DiGeorge Syndrome and Fallot’s Tetralogy and an 18-year-old sister apparently in good health condition. At birth she was diagnosed with Fallot’s and congenital hip luxation. When she was three months old she underwent a surgical procedure to perform a Blalock Taussig shunt, the patient suffered laryngeal stenosis due to a complicated intubation. During procedure the medical team confirmed the thymical atresia. When she was 3 years and 9 months old, a total correction of Fallot´s Tetralogy was performed; this procedure included the closing of the ventricular septal defect, infundibular plasty, and expansion of the outflow tract of the right ventricle. The patient was discharged from the hospital in good medical condition, but remained with laryngeal stridor. Discussion and conclusions: They have been focused in three different medical points of view: from the genetic point of view we argue the odd presentation of a 22q11 mosaic microdeletion, from the syndromatical point of view we argue the great clinical variations of the DiGeorge´s Syndrome presentation and finally from the therapeutic point of view, we discuss the best options for surgical management of the heart anomaly.

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