Forty-three-year-old male diagnosed with Klinefelter syndrome and showing radiological findings suggesting a demyelinating pathology who presents several psychiatric manifestations including megalomaniacal ideation, delusion, lack of impulse control and behavioral alterations.

Forty-three-year-old male diagnosed with Klinefelter syndrome at the age of 31, presenting several psychiatric pathologies since adolescence: delusions, megalomania, mood fluctuation, and high impulsiveness. The patient had a poor therapeutic response to anti-psychotic drugs and ECT. He was hospitalized up to 9 times, but the full control of the symptomatology was not achieved. During his last hospitalization, a MRI revealed lesions compatible with a demyelinating pathology.

A higher prevalence of schizophrenia spectrum disorders has been described among patients suffering from Klinefelter syndrome, which might explain the role of the X chromosome in the susceptibility to psychiatric disorders, particularly to psychosis. Furthermore, the brain structure alterations presented by patients suffering from Klinefelter syndrome are similar to those described among schizophrenic patients: small brain volume, lateral cerebral ventricular enlargement and reduced temporal gyrus, amygdala, insula and cingulate cortex. Patients suffering from multiple sclerosis are more prone to psychiatric disorders, such as mood swing, aggressiveness or psychosis, which are not concurrent with the physical progression of the disease, sometimes being its first manifestation. Even when being patchy and multifocal, demyelination seems to be concentrated in the frontal lobes, related to the cognitive and affective functions and the personality.

Both multiple sclerosis and Klinefelder syndrome may alter the brain structure, mainly in the frontal lobe, and predispose to psychiatric disorders.

The authors have not supplied their declaration of competing interest.