Two cases of generalized seizures and the Velocardiofacial syndrome – a clinically significant association?

Background Velocardiofacial syndrome (VCFS) is caused by a micro deletion of chromosome 22q11 and associated with multiple system abnormalities. There is an increasing recognition of associations with psychiatric disorders. Neurological and brain abnormalities have been reported but to date no association with generalized epilepsy has been reported in literature. Methods We report two cases of adults with VCFS and primary generalized epilepsy. The details on their background, psychiatric history and history of epilepsy including results of investigations will be discussed. Results Case 1 is an adult male with mild learning disability (LD), VCFS, paranoid schizophrenia and primary generalized epilepsy. Case 2 is an adult female with mild LD, VCFS, schizoaffective disorder and primary generalized epilepsy. The diagnosis of epilepsy in both cases was based on clinical and EEG findings of primary generalized abnormalities. Conclusion As there is an evidence of association between VCFS and psychiatric disorders, this raises the possibility of an association with generalized epilepsy.