Psychotic Features as the First Manifestation of 22q11.2 Deletion Syndrome.
- Author:
So Dahm KOOK
1
;
Suk Kyoon AN
;
Kyung Ran KIM
;
Woo Jung KIM
;
Eun LEE
;
Kee NAMKOONG
Author Information
1. Department of Psychiatry, Yonsei University College of Medicine, Seoul, Korea. leeeun@yuhs.ac
- Publication Type:Case Report
- Keywords:
22q11.2 deletion;
Schizophrenia;
Seizure;
Immunodeficiency;
Velocardiofacial syndrome
- MeSH:
Adult;
Delusions;
DiGeorge Syndrome;
Female;
Hallucinations;
Humans;
Hypoparathyroidism;
Hypothyroidism;
In Situ Hybridization, Fluorescence;
Psychiatry;
Schizophrenia;
Seizures;
Sepsis
- From:Psychiatry Investigation
2010;7(1):72-74
- CountryRepublic of Korea
- Language:English
-
Abstract:
The 22q11.2 deletion is a genetic disorder which is characterized by abnormalities in cardiac functioning, facial structure, neurobehavioral development, T cell functioning, and velopharyngeal insufficiencies. In the presented case study, 22q11.2 deletion was found in a patient who has psychotic symptoms only. A 25-year-old woman with a history of hypoparathyroidism and hypothyroidism presented with auditory hallucinations and persecutory delusions. After three months of treatment with antipsychotic medications, the patient was readmitted with generalized tonic-clonic seizures. The following week, the patient went into sepsis. A fluorescent in situ hybridization (FISH) analysis revealed the presence of a 22q11.2 microdeletion. This case study suggests that psychotic symptoms can develop prior to the typical symptoms of a 22q11.2 deletion. As such, psychiatrists should test for genetic abnormalities in patients with schizophrenia when these patients present with seizures and immunodeficiencies.
