Rubinstein – Taybi in Syndrome a Peruvian patient with mild mental retardation: A case report / Síndrome de Rubinstein - Taybi em um paciente Peruano com leve retardo mental: 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
• DOI: 10.34117/bjdv6n8-717
• Texto Completo: https://ojs.brazilianjournals.com.br/ojs/index.php/BRJD/article/view/15938
• topic: Child; Mild intellectual disability; Rubistein-Taybi Syndrome.

Rubisntein-Taybi syndrome is of genetic origin, caused by a mutation in the CREBBP gene, which undergoes classic phenotypic changes and changes in neuropsychomotor development. In this sense, this article aims to report the case of a Peruvian patient with the clinical and genotypic diagnosis of the disease. During the prenatal period, the fetus did not have alterations that would suggest the syndrome, but at birth, it had a hemangioma, but without clinical repercussion. In the first three months of life, its development was normal, but from the fourth month on, delays were noticed. At 6 months of age, he was not holding his head, so the parents looked for a geneticist who first made the clinical diagnosis and then requested the karyotype, which confirmed the diagnosis. With this, he already started with multidisciplinary treatment and was still placed to study in regular schools in order to improve his development. Currently, at the age of 15, the patient is in treatment with a multidisciplinary approach and in a school to include children with some neurological weakness in the social environment, in order to avoid bullying from other colleagues. He presents phenotypic alterations characteristic of the syndrome, but the cognitive delay is mild when compared to other adolescents with the same pathology. Therefore, this work shows the need for diagnosis and a multidisciplinary approach in treatment. Even so, more studies are needed to learn more about this syndrome and thus provide a better safeguard of the lives of the patients, as occurred in the case of this patient.