RETT SYNDROME: DIFFICULTIES OF DIAGNOSTICS (CLINICAL AND PSYCHOPATHOLOGICAL ASPECTS)

Showed a rare case of atypical forms of Rett syndrome in girl adolescent. The peculiarity of the disease was in the late manifestation of clinical symptoms (6 years old), when there was autistic behavior and regression in development, as well as rare stereotypical hand movements, with characteristic changes in the EEG as benign epileptiform patterns of childhood. In adolescence (12 years) there were episodes of hyperventilation and arrest breathing, deformation of the back, inappropriate laughter and screams. Was found mutation in the heterozygous state (s.674>G / N) in the gene MECP2 (exons 1–4) by the method of direct automatic sequencing.