An Unusual Presentation of DiGeorge Syndrome

Abstract

Introduction: DiGeorge syndrome is a heterogenous disorder with various clinical presentations. Common features of 22q11.2 deletion syndrome include thymic hypoplasia T-cell lymphopenia, conotruncal heart defects, facial dysmorphism, cleft palate, developmental delay and hypoparathyroidism. The severity of the condition varies, however typical presentation includes congenital heart defects and characteristic facial features. Isolated hypocalcemia in DiGeorge syndrome is rarely seen in as the sole manifestation in older teenagers of adults Aim: To report a case of an atypical presentation of DiGeorge syndrome Results: We report here a case of an infant who was diagnosed with DiGeorge syndrome with seizures being the only clinical manifestation displayed by the patient. He was found to have low TRECs on a newborn screen for severe combined immunodeficiency. He did not have facial dysmorphism nor cardiac defect. Conclusion: Our case showed that severe hypocalcemia can be the only presenting symptom in DiGeorge syndrome, based on this case we recommend physicians to test for calcium levels and PTH at the first encounter with a positive NBS for SCID.