Aim: The aim of our study was to raise the awareness of physicians when to suspect the diagnosis of DGS in the post childhood period.
Background: DiGeorge Syndrome (DGS), one of the 22q11deletion syndromes is a congenital multi-system anomaly. The diversity of clinical presentations makes the diagnosis of DGS, especially in the post childhood period, a diagnostic challenge.
Methods: Retrospective study investigated patients diagnosed clinically and genetically with DGS at the Sheba Medical Center, Tel Hashomer during 2010-2013. Post childhood period was defined as age > 10 years. The diagnosis of DGS was confirmed using Fluorescence in situ Hybridization (FISH).
Results: During the study period, 29 patients aged 0 to 57 years old were diagnosed with DGS by FISH test. Nine DGS patients (31%) were diagnosed after the post childhood period. The majority of them were diagnosed due to clinical suspicion and the others due to a diagnosis of DGS in a family member. The clinical suspicion that brought the clinicians to suspect DGS was diverse without a leading symptom. However, once the suspicion was brought into attention, additional symptoms were revealed, among them 88% of the patients presented characteristic facial features and developmental delay.
Conclusion: The combination of the diverse presentation and lack of appropriate diagnostic criteria makes partial DGS a diagnostic challenge especially in the post childhood period. One should remember that diagnosing patients in the post childhood period with DGS is not uncommon. Characteristic facial features and developmental delay, albeit not a leading presenting symptom, occur very frequently in patients with DGS.
