Clinical Case of Rett Syndrome: the Experience of Observing Older Preschooler
https://doi.org/10.15690/pf.v22i2.2872
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.
Supporting agencies: The authors express gratitude to the project supervisor and child’s parents
About the Authors
Ekaterina A. Kovalenkova
Smolensk State Medical University
Russian Federation
Disclosure of interest:
Russian Federation
Ekaterina A. Kovalenkova – student.
Smolensk
Disclosure of interest:
Not declared
Sofya A. Kovalenkova
Smolensk State Medical University
Russian Federation
Disclosure of interest:
Russian Federation
Sofya A. Kovalenkova - student.
28, Krupskoy Str., Smolensk, 214019, телефон: +7 (915) 633-06-03
Disclosure of interest:
Not declared
Dmitry S. Krutikov
Smolensk State Medical University
Russian Federation
Disclosure of interest:
Russian Federation
Dmitry S. Krutikov - student.
Smolensk
Disclosure of interest:
Not declared
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Review
For citations:
Kovalenkova E.A., Kovalenkova S.A., Krutikov D.S. Clinical Case of Rett Syndrome: the Experience of Observing Older Preschooler. Pediatric pharmacology. 2025;22(2):184-188. (In Russ.) https://doi.org/10.15690/pf.v22i2.2872
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