Partial digeorge syndrome with hypertrophied arytenoids in a neonate: Expanding the clinical phenotype

Abstract

Background: DiGeorge Syndrome (DGS) is caused by the 22q11 deletion. There is wide variation in the phenotypic presentation due to incomplete penetrance. Since dysmorphism is subtle in neonates, a high index of suspicion should be kept. Clinical Description: A 2.8 kg term baby girl born of a cesarean section developed stridor and respiratory distress and was referred to our hospital at 14 days for the persistence of symptoms. The manifestations were severe, requiring respiratory support, and not explainable by clinical findings, radiological atelectasis, and normal echocardiography. The baby had hypocalcemia (that had been noted and treated earlier), hypoparathyroidism and Vitamin D deficiency, for which standard therapy was started. Airway endoscopy revealed hypertrophied arytenoids which have not been reported in DGS before. Management: The presence of abnormal laryngeal with hypocalcemia prompted us to consider DGS. The likelihood became stronger when a chest ultrasonogram detected athymia. The identification of 22q microdeletion by fluorescence in situ hybridization confirmed the diagnosis. It was decided to perform supraglottoplasty to avoid the postoperative complications associated with direct vocal cord repair. The postoperative period was uneventful. The immunological profile was normal, besides a low count of normal CD4+ naïve cells. The final diagnosis was partial DGS. Conclusion: Genetic testing for 22q11 deletion should be done in the presence of laryngeal pathology and any of the following: congenital cardiopathy, velopharyngeal insufficiency, thymic hypoplasia, and neonatal hypocalcemia.

Keywords

• di george syndrome
• hypocalcemia
• hypoparathyroidism
• stridor
• supraglottoplasty