Sindrome di DiGeorge: il caso di Laura

Abstract

DiGeorge syndrome represents one of the most frequent primary im- munodeficiencies. The responsible mutation is a deletion of chromo- some 22. The clinical phenotype is variable, but it can be characterized by common pathological tracts, like facial dysmorphia, thymic hypo/aplasia, hypoparathyroidism, cardiovascular anomalies and cleft defects. During growth language delay and behaviour problems have frequently been described in patients with DiGeorge syndrome. The clinical suspect has to be confirmed by genetic analysis. The most effective medical intervention to improve the quality of life of these patients is represented by early diagnosis and multidisciplinary follow up. Laura's case is the remarkable example of such clinical check.