Abstract
DiGeorge syndrome is a spectrum of disorders characterized by the malformation of the third and fourth pharyngeal pouches. It is a hereditary disorder caused primarily by chromosome 22 microdeletions. We present a case of a 2-year-old boy who suffered from recent onset generalised seizures. The cause of the convulsions was determined to be severe hypocalcaemia. The child had dysmorphic facies, delayed language development, and an acyanotic heart disease. These observations resulted in clinical suspicion of Di George syndrome, which was confirmed using fluorescence in situ hybridisation. The clinical range of 22q11 deletion syndrome is broad, as evidenced by this patient’s results.
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