Schizophrenia-like illness in velo-cardio-facial syndrome: a genetic subsyndrome of schizophrenia?

BACKGROUND

The study of genetic illnesses that have a behavioral phenotype resembling psychosis can provide important insights into the genetic basis of psychotic disorders and their patho-mechanisms. An important example of such a genetic disorder is the velo-cardio-facial syndrome (VCFS) associated with 22q11 microdeletion.

CASE REPORT: The case of a 22-year-old male, who had the typical genotype and phenotype of VCFS and developed a psychotic illness characterized by withdrawal, catatonic posturing, inappropriate affect, stereotyped behavior, negativism and poverty of speech, is described. He had a partial response to an atypical neuroleptic, but developed myoclonus that was controlled with an anticonvulsant.

CONCLUSION

The association of VCFS with schizophrenia-like psychosis is worthy of further study as it may provide insights into the molecular basis of neurodevelopment and its aberrations in psychotic disorders.