Abstract
BackgroundDiGeorge syndrome (DGS) is also known as “22q11.2 deletion syndrome”. We aimed to evaluate the clinical, laboratory, radiological, and neuropsychological findings of our patients diagnosed with DGS in this study. MethodsPatients with DGS were included in the study between June 2000-March 2022. Clinical and laboratory data of patients were evaluated retrospectively. Neuropsychological tests were applied to the patients to evaluate their neurocognitive findings. ResultsFifty-two patients (28 male and 24 female) were included in our study. Bilateral conduction deceleration in the anterior visual pathways in 6 (20%) of 30 patients was determined by the VEP (Visual Evoked Potentials). The auditory brainstem evoked potential test (BAEP) showed sensorineural hearing loss in 11 out of 30 (36.6%) patients. Cranial MRI disclosed developmental brain abnormalities in 18 out of 25 (72%) patients. The neuropsychological assessment showed that impairments in executive functions, expressive language, and verbal memory of 18 patients were noted. ConclusionPatients diagnosed with DGS should be monitored multidisciplinary, and it should be kept in mind that they may be presented with neuropsychiatric findings or hypocalcemia as the initial symptom in advanced age. Awareness of the potential for underlying neurologic disorders is key to anticipatory guidance, optimization of therapies, and maximizing life quality
Published Version
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