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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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.

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