De Sanctisa-Caccione Syndrome

De Sanctis-caccione syndrome

Etiology

The causes of the disorder have not been studied; according to one assumption, it develops as a result of a mutation of a gene on chromosome 4 and a gene on chromosome 8. However, it is known that the syndrome occurs in one sibling of twins with normal development.

Pathogenesis

In pathogenesis, the main role is played by changes in the development of subcortical structures, especially the hypothalamus and limbic system, disrupting their interaction with higher-level CNS structures. This explains the presence of primitive features already in the neonatal period and the aggravation of pathology by

De Sanctis-Cacchione syndrome is a rare genetic disorder characterized by cognitive, behavioral and emotional disturbances in children and adolescents. The syndrome is named after psychiatrists Charles De Sanctis and Aldo Cacchione, who described it in 1938.

This rare mental pathology is called “idiotic xeroderma” (IDIOD) in the international classification of diseases. It usually occurs in young children, but can also occur in adult patients. The main symptoms are mental retardation, disturbances in speech, movement, coordination and behavior, as well as skin and hair changes: individuals with the syndrome often experience increased dry skin; Freckles common, hair light and soft. In addition, patients with idiocy xeroderma may experience defects in the eyes, ears, and head - a complete or partial absence of lines on the skin in these areas.

Although the exact origin of the disease is unknown, research suggests that it is caused by mutations in genes responsible for the development of skin and brain cells. This can lead to impairments in communication and motor coordination, as well as emotional distress and decreased mental development.

Treatment for xeroderma idiocy usually includes psychotherapy and social adaptation, since manifestations of the syndrome can negatively affect the patient’s overall quality of life. Children with this condition often require special medical and educational assistance to improve their life adaptation.

However, in some cases, surgery or other medical procedures may be necessary, such as removing skin tissue to improve the condition of the dermis or treat skin conditions. Thus, it is important to promptly seek medical help and undergo diagnosis of this disease for early detection and successful treatment.