Rett syndrome is a progressive degenerative disease of the central nervous system mainly in girls.
ICD-10 code
F84.2 Rett syndrome.
The causes and pathogenesis of Rett syndrome
The genetic nature of Rett's syndrome is associated with the breakdown of the X chromosome and the presence of spontaneous mutations in the regulator genes of the replication process. A selective deficiency of a number of proteins regulating the growth of dendrites, glutamine receptors in the basal ganglia, as well as violations of dopaminergic and cholinergic functions has been revealed.
With the help of CT, multiple nonspecific neuromorphological changes in the brain were found. With EEG - violations of bioelectric activity. Assume the defeat of the lower motor neurons, basal ganglia, involvement of the spinal cord, trunk and hypothalamus. Characteristic are the slowing down of the development of the brain after birth and stopping it by four years. There is also a slowdown in the growth of the body and individual organs (heart, liver, kidneys, spleen).
Symptoms of Rett syndrome
In typical cases, the onset of Rett syndrome manifests itself between 6 and 24 months on the background of outwardly normal development. In the clinical picture, four stages are distinguished.
- I stage (the child's age is 6-12 months) is characterized by slower growth in the length of the hands, feet, and head circumference; muscle hypotension.
- In Stage II (the age of the child 12-24 months), speech loss, intentional hand movements and acquired fine manipulative skills with the appearance of various stereotypical movements by hands (wringing or washing hands, wetting the hands with saliva, etc.) are noted. In the majority of patients, the peculiarities of respiration in the form of apnea are revealed within 1-2 minutes, followed by hyperventilation. In 50-80% of cases, there are epileptic seizures of various types, poorly amenable to anticonvulsants, extrapyramidal disorders in the form of muscular dystonia, ataxia, hyperkinesia.
- III stage (pseudo-stationary) covers a long period of preschool and early school age. The state of children is relatively stable. At the forefront are profound mental retardation, convulsive seizures, extrapyramidal disorders.
- IV stage is characterized by progression of motor disorders, changes in joints and spine. Patients are deprived of the ability to move independently.