Reminder of important clinical lesson: Schizotypy: key feature of Klinefelter’s syndrome?

摘要

Klinefelter’s syndrome (KS; karyotype 47,XXY) is associated with specific neurocognitive impairments, especially delayed language development and impaired socioemotional evolution. There is an increased risk for psychiatric disturbances, particularly schizophrenia and affective spectrum disorders.A 51-year-old monozygotic male twin with KS is described of whom one was referred for long-lasting paranoid psychotic symptoms. Both were treated with testosterone and had an average level of intelligence. Detailed psychiatric and neuropsychological assessment in the referred patient demonstrated quasi-psychotic symptoms with illusions, delusion-like ideas, paranoid ideation, magical thinking, circumstantial speech and thinking and eccentric behaviours. In addition, attentional deficits and executive dysfunctions could be demonstrated. A diagnosis of schizotypal personality disorder was made. A less pronounced identical clinical picture was found in his brother. The psychopathological phenotype of KS is characterised by a schizotypal personality which originates from its specific cognitive defects and that, with increasing age, may develop into a schizophrenia-like psychosis.