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

Authors

  • Pedro Teixeira Meireles Brazilian Journals Publicações de Periódicos, São José dos Pinhais, Paraná
  • Mateus Borges Soares
  • Diego Rodrigues Naves Barbosa Lacerda
  • Bruno Belmonte Martineli Gomes
  • Eduardo Elias Vieira de Carvalho
  • Ana Karina Marques Salge
  • George Kemil Abdalla
  • Douglas Reis Abdalla

DOI:

https://doi.org/10.34117/bjdv6n8-722

Keywords:

Child, Genetics, Rett Syndrome.

Abstract

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.

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Published

2020-09-01

How to Cite

Meireles, P. T., Soares, M. B., Lacerda, D. R. N. B., Gomes, B. B. M., Carvalho, E. E. V. de, Salge, A. K. M., Abdalla, G. K., & Abdalla, D. R. (2020). Rett Syndrome in a Peruvian patient: A case report / Síndrome de Rett em um paciente peruano: Um relato de caso. Brazilian Journal of Development, 6(8), 63967–63974. https://doi.org/10.34117/bjdv6n8-722

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Section

Original Papers