An interictal schizophrenia-like psychosis in an adult patient with 22q11.2 deletion syndrome

Epilepsy Behav Case Rep. 2015 Apr 6:3:36-8. doi: 10.1016/j.ebcr.2015.03.002. eCollection 2015.

Abstract

In addition to causing polymalformative syndrome, 22q11.2 deletion can lead to various neuropsychiatric disorders including mental retardation, psychosis, and epilepsy. However, few reports regarding epilepsy-related psychosis in 22q11.2 deletion syndrome (22q11.2DS) exist. We describe the clinical characteristics and course of 22q11.2DS in a Japanese patient with comorbid mild mental retardation, childhood-onset localization-related epilepsy, and adult-onset, interictal schizophrenia-like psychosis. From a diagnostic viewpoint, early detection of impaired intellectual functioning and hyperprolinemia in patients with epilepsy with 22q11.2DS may be helpful in predicting the developmental timing of interictal psychosis. From a therapeutic viewpoint, special attention needs to be paid to phenytoin-induced hypocalcemia in this syndrome.

Keywords: 22q11.2 deletion syndrome; DiGeorge syndrome; Epilepsy; Hyperprolinemia; Interictal psychosis; Mental retardation; Phenytoin-induced hypocalcemia.

Publication types

  • Case Reports