Brunner syndrome

Brunner syndrome is an extremely rare congenital genetically determined disorder that primarily affects the central nervous system and has a detrimental impact on intellectual functioning and behavior. An imbalance of neurotransmitters, in the sense of their excessive accumulation in the brain, affects brain activity, particularly intelligence and behavior. Affected individuals exhibit mild intellectual disability and various behavioral disorders. People with this syndrome tend to be aggressive, show mood instability and tendencies toward violent behavior, and commonly present with attention and learning difficulties. Individuals with this syndrome may be dangerous to their surroundings.

Causes

The cause is a congenital mutation of the gene responsible for the proper function of the MAO‑A enzyme (monoamine oxidase A). This enzyme plays an important role in the central nervous system, where it is responsible for the proper breakdown of neurotransmitters—serotonin, norepinephrine, and dopamine (substances involved in signal transmission between nerve cells). When the enzyme is defective, neurotransmitters begin to accumulate. The affected gene is located on the X chromosome. Brunner syndrome was first described in 1993, when 14 males from a large Dutch family were identified as affected. Subsequently, the mutation was localized to a specific gene.

Diagnosis

The diagnosis can be established by genetic testing.

Treatment

No causal treatment is known. Behavioral and intellectual impairments are managed through special educational support, early intervention, and, when necessary, with the assistance of a psychologist and psychiatrist. Serotonin inhibitors and antidepressants are used.

• znížený intelekt (priemer okolo 85) a mentálna retardácia rôzneho rozsahu
• poruchy správania – agresivita, výbušnosť, zmeny nálad, násilné správanie, poruchy sústredenia a učenia
• poruchy spánku
• introvertné správanie
• obsesívne správanie, hypersexualita
• bolesti hlavy, hnačky (neurotického charakteru)