Background: DiGeorge syndrome, the most common microdeletion syndrome, affects multiple organs, including the heart, the nervous system, and the immune system. In this study, we aimed to evaluate the clinical, laboratory, radiological, and neuropsychological findings of our patients with DGS.
Methods: Clinical and laboratory data of fifty-two patients with DGS between June 2000- March 2022 were evaluated retrospectively. Brain MRI and neuropsychological tests were performed to assess the neurocognitive status of the patients
Results: Fifty-two patients (28 maleand 24 female) were included in our study. Fifteen of them died during follow-up. All 37 patients under clinical follow-up had partial DGS. The median age of patients was ten years and seven months, and the median age at diagnosis was five years and four months. 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. Impairments in executive functions, expressive language, and verbal memory were noted in 18 patients who were neuropsychologically assessed.
Conclusion: It is important to keep in mind that patients with DGS may be presented with neuropsychiatric findings as the initial symptom. Therefore, a basic knowledge of this syndrome is crucial for pediatric and adult neurologists and psychiatrists who follow up with patients with epilepsy, movement disorder, or mental disorders.
