Rett Syndrome in a Peruvian patient: A case report / Síndrome de Rett em um paciente peruano: Um relato de caso

• Autor(a) principal: Meireles, Pedro Teixeira
• Data de Publicação: 2020
• Outros Autores: Soares, Mateus Borges, Lacerda, Diego Rodrigues Naves Barbosa, Gomes, Bruno Belmonte Martineli, Carvalho, Eduardo Elias Vieira de, Salge, Ana Karina Marques, Abdalla, George Kemil, Abdalla, Douglas Reis
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Revista Veras
• Texto Completo: https://ojs.brazilianjournals.com.br/ojs/index.php/BRJD/article/view/15946
• topic: Child; Genetics; Rett Syndrome.

Rett syndrome is of genetic origin, caused by a mutation of dominant characteristic in the MeCP2 gene, which studies with psychomotor alterations in children. In this sense, this article aims to report the case of a Peruvian patient with the late diagnosis of the disease. The patient started the clinical characteristics of the disease at one year and two months, but the diagnosis, with a genetic study that identified the mutation, was only made at 3 years. During this period her diagnoses were: absence epilepsy and microcephaly. These misconceptions favored the accentuation of biopsychomotor delays. Currently, at the age of 4, the patient is being treated with a multidisciplinary approach, but as there are serious sequelae, there are delays in development and results take time to appear. Therefore, this work shows the difficulty of diagnosis, the need for a multidisciplinary approach in treatment and that there is a need for more studies to learn more about this syndrome and thus be able to provide a better safeguard of the lives of the patients.