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.


METHODS
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.


CONCLUSIONS
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.
Sachdev
Perminder
P
Neuropsychiatric Institute, Euroa Centre, Prince of Wales Hospital, Randwick, NSW 2031, Australia. p.sachdev@unsw.edu.au
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000523:psychology; D000328:Adult; D002892:Chromosomes, Human, Pair 22; D005145:Face / Q000002:abnormalities; D005824:Genetics, Behavioral; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D008297:Male; D011618:Psychotic Disorders / Q000235:genetics* / Q000523:psychology; D012559:Schizophrenia / Q000235:genetics*; D012565:Schizophrenic Psychology; D013577:Syndrome