22q11.2 deletion syndrome is a primary immunodeficiency due to micro-deletion on the large arm of chromosome 22. Patients suffer from several anomalies, including metal illness, that such the case we present, mean a warning sign for further study.
Twenty-one years-old male, with psychotic symptoms, typical of schizophrenia, behavioral disorders and mental confusion, plus epileptic episodes and psychomotor agitation. Two previous incomes with the diagnosis of psychotic disorder not otherwise specified. Treated with anti-psychotics at low doses with inter-episode stability.
Prematurity, low birth weight, neonatal asphyxia, generalized seizures, otitis and recurrent urinary tract infections, hypernasal voice, poor academic performance, difficulty relating. Physical examination: hypernasal voice, furred tongue, dysmorphic faces, scoliosis, hipotanía, stereotypes, delusions, auditory hallucinationsd negative symptoms.
We considered the possibility of a neurodevelopmental disorder, with a multidisciplinary approach, resulting in the diagnosis of paranoid schizophrenia and velocardiofacial syndrome, which had gone unnoticed. Mean doses of clozapine, haloperidol and topiramate were used. He accepted psychiatry and other specialties follow-up, since it requires a complex and multidisciplinary approach.
Definition of velocardiofacial Syndrome and lack of consensus on terminology:
– syndrome 22q11.2 DS as genetic subtype of schizophrenia? Opportunity to study the pathogenesis of schizophrenia;
– the importance of a comprehensive approach to early diagnosis, clinical improvement and preventing complications.
Disclosure of interest
The authors have not supplied their declaration of competing interest.