Year: 2025
Type: article
Study design: Case Report
Abstract: Background. Rett syndrome is a rare neuropsychiatric disorder associated with sporadic mutations in the X-linked methyl-CpG binding protein 2 (MECP2) gene. Considering the cruciality of early diagnosis, the necessity of multidisciplinary approach in the management and support of such children, the study of Rett syndrome clinical cases is essential to raise awareness and improve the patients and their families’ quality of life. Clinical case description. This article describes the clinical picture of Rett syndrome in girl P., born from second natural delivery at the 40th week of gestation, weight at birth – 3200 g. There were no deviations in psychomotor skills development before disease onset. However, classic manifestations have appeared by the age of two: alalia, motor stereotypy, equinus gait, bruxism, communication via sight. The Rett syndrome was confirmed via molecular genetic study: mutation in the X-linked methyl-CpG binding protein 2 (MECP2) gene was revealed. Conclusion. This clinical case demonstrates the importance to inform doctors about timely disease detection and multidisciplinary approach to its diagnosis and management. The use of DNA screening for early disease detection greatly improves the chances of effective treatment and rehabilitation.
Source: Педиатрическая фармакология
Institution: Smolensk State Medical University
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4410755603