"Catch-ing digeorge at 22" a case report of a neonate considered with digeorge syndrome /
Emery Anne S. Aquino.
- Fairview, Quezon City Department of Child Health, FEU-NRMF, 2016
- (in folder)
Includes bibliographical references.
ABSTRACT: DiGeorge syndrome is listed as a "rare disease" by the Office of Rare diseases of the National Institutes of Health. It is a well-defined primary immunodeficiency disorder andis characterized by congenital heart defect, palatal or ear anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities (22q11.2 Deletion syndrome article, Elaine H Zackai, MD, et al., 2013). Described is a 1-day old neonate presented with tachypnea, with subcostal and intercostals retractions and crackles on both lung fields consistent with Neonatal Pneumonia and with further evaluation and examination, was considered with DiGeorge Syndrome based on her congenital heart disease- VSD, ASD, PDA and interrupted aortic arch. Facial dysmorphisms described as high and bridge nose, short palpebral fissure, underdeveloped right pinna facial asymmetry when crying and persistent hypocalcemia were as well noted. However, during the course in the ward, patient had recurrent pneumonia with associated congenital heart disease in failure that lead to demise of the patient. Currently still awaiting for result of Fluorescence In-situ Hybridization for confirmation. This case emphasizes the important of early recognition of the deletion, so that the treatment of involved organ anomalies can be initiated, screening for associated malformations performed and prevention of neuropsychological problems be provided. A multidisciplinary approach is fundamental to ensure that the patient will be able to attain his or her maximal potential and genetic counselling be emphasized as well.