Rett syndrome: criteria for diagnosis, course, prognosis (description of a clinical case)
https://doi.org/10.56618/2071-2693_2024_16_4_203
EDN: WTVBOB
Abstract
Rett syndrome is a progressive neurodegenerative disease caused by a mutation in the MESP2 gene. To make a diagnosis, the main and additional criteria of the disease are used, as well as molecular genetic methods confirming the mutation. This article presents a clinical case of Rett syndrome, describes the main approaches to therapy and features of patient curation.
About the Authors
L. M. Shchugareva
Children’s City Multidisciplinary Clinical Specialized Center of High Medical Technologies;
North-Western State Medical University named after I. I. Mechnikov
Russian Federation
Russian Federation
Lyudmila M. Shchugareva – Dr. of Sci. (Med.), Professor; Neurologist
14 Avangardnaya street, St. Petersburg, Russian Federation, 198205
41 Kirochnaya street, St. Petersburg, Russian Federation, 191015
O. V. Poteshkina
Children’s City Multidisciplinary Clinical Specialized Center of High Medical Technologies;
North-Western State Medical University named after I. I. Mechnikov
Russian Federation
Russian Federation
Oksana V. Poteshkina – Cand. of Sci. (Med.); Neurologist
14 Avangardnaya street, St. Petersburg, Russian Federation, 198205
41 Kirochnaya street, St. Petersburg, Russian Federation, 191015
A. P. Skoromets
Children’s City Multidisciplinary Clinical Specialized Center of High Medical Technologies;
Pavlov University;
Center for Rehabilitation Treatment “Child Psychiatry” named after S. S. Mnukhin
Russian Federation
Russian Federation
Anna P. Skoromets – Dr. of Sci. (Med.), Professor; Neurologist
14 Avangardnaya street, St. Petersburg, Russian Federation, 198205
6-8 Lev Tolstoy streer, St. Petersburg, Russian Federation, 197022
13 Chapygina street, St. Petersburg, Russian Federation, 197022
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Review
For citations:
Shchugareva L.M., Poteshkina O.V., Skoromets A.P. Rett syndrome: criteria for diagnosis, course, prognosis (description of a clinical case). Russian Neurosurgical Journal named after Professor A. L. Polenov. 2024;16(4):203-210. (In Russ.) https://doi.org/10.56618/2071-2693_2024_16_4_203. EDN: WTVBOB
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