Rett Syndrome: A Case Report

Maleyka Karimova^1* , Bahar Gadimaliyeva² , Sevda Suzme³

Abstract. Rett syndrome (RS) is a severe neurodevelopmental disorder leading to severe intellectual disability in females worldwide. The condition is caused by a random mutation in the MECP2 gene, which is located on the X chromosome. Because it occurs as a spontaneous genetic change, it is rarely inherited from the parents. RS is accompanied by a large number of stereotypical movements, which are often mistaken for seizures. A ten-year-old girl presented with classic features of RS, including developmental regression with dementia, loss of acquired speech and hand function, and stereotypic hand movements along. A molecular genetic study was carried out, using direct automatic sequencing of the MECP2 gene (NM_001110792.2), a search for the mutations was carried out, during which the c.982dup (p.Val328GlyfsTer15) mutation was discovered in the heterozygous state, a diagnosis of “Rett syndrome” was made. Since there is no specific treatment for it, the child is recommended symptomatic: with the use of drugs, improving cerebral circulation; rehabilitation: with courses of massage, physiotherapy, a developed complex of physical therapy, speech therapy treatment. An integral part of rehabilitation is the use of psychosocial, psychoeducational programs for the patient and all members of his family.

Keywords: Rett syndrome, MECP2, developmental regression, clinical variability, stereotypical movements