De los síntomas psicóticos al síndrome de DiGeorge

Resumo

Objective: To detect a multiorgan syndrome from psychotic symptoms that had been previously unnoticed. Clinical case: A 19 year-old male patient, with behavioural alterations, delusions, hallucinations, and psychomotor agitation, of 20 days progression. Personal history: Preterm, low birth weight; neonatal asphyxia, generalised seizures, otitis, recurrent urinary tract infections, nasal polyps, as well as an unsatisfactory academic performance, social difficulties. Consultations in Child Psychiatry for Generalised Development Disorder. Examination: Hyper-nasal voice, dysmorphic facies. Scoliosis. Hypotonia Contact avoided. Stereotypes. Delusions, auditory hallucinations. Negative symptoms. Complementary tests: Proteinogram, quantification of immunoglobulins, echocardiogram, EEG, CT and brain MRI, genetic tests. Results: Diagnosis: Velo-cardio-facial syndrome (22q11.2 deletion). Treatment: Antipsychotics and anticonvulsants. Multidisciplinary approach to complete study. Discussion: Psychiatric comorbidities are highly prevalent in 22q11.2 deletion syndrome (DS), affecting three quarters of all diagnosed individuals. These include schizophrenia spectrum disorders. About one third of individuals with 22q11.2DS developed a psychotic disorder, most of them early in adult life. The 22q11.2 DS may be an opportunity to study the aetiopathogenesis of schizophrenia. It is essential to carry out a comprehensive approach to perform an early diagnosis in these cases, and minimise the clinical impact.