Two Faces of the Same Coin - Seizures in DiGeorge Syndrome: a Case Report

Introduction: DiGeorge (22q11.2 deletion) syndrome is one of the most frequently encountered genetic syndromes. Nevertheless, the phenotype is highly variable among individuals.

Case presentation: We present the case of a 8-year-old boy who was diagnosed in the neonatal period with DiGeorge Syndrome confirmed by FISH analysis, which revealed a microdeletion at 22q11.2. Parents were also tested and 22q11.2 deletion was infirmed. Findings associated with 22q11.2 deletion syndrome revealed thymus absence, cleft palate, hypospadias and recurrent bone fractures. The suspicion of DiGeorge was raised after he presented with neonatal hypocalcemic seizures due to hypoparathyroidism. At 1 year of life he developed epileptic seizures treated with Levetiracetam. A brain MRI was performed that showed right fronto-parieto-temporo-occipital polymicrogyria consistent with his left spastic hemiparesis.

Conclusion: we have proven that his seizures even though expected to have a double etiology, are based on the child’s genetic mutation. We underline the importance of both genetic and imagistic evaluation in these cases.