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

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/bjdv6n8-717

Keywords:

Child, Mild intellectual disability, Rubistein-Taybi Syndrome.

Abstract

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.

References

- Rubinstein JH, Taybi H. BroadThumsand toes and facial abnormalities. A possible mental retardationsyndrome. Am J DisChild 1963;105:88-108.

- Berry AC. Rubinstein-TaybiSyndrome. American Journalof Medical Genetics1987;24:526- 66.

- Rubinstein JH. Broadthumb-hallux (Rubinstein-Taybi) Syndrome. American Journalof Medical Genetics1990; 6:3-16.

- Ghanen Q, Dawod S. Monozygotictwinconcordant for RubinsteinTaybisy syndrome.

ClinGenet1990;37:429-34.

- O. Bartsch, W. Kress, O. Kempf, S. Lechno, T. Haaf, and U. Zechner, “Inheritanceandvariableexpression in Rubinstein-Taybisyndrome,” American Journalof Medical GeneticsPart A, vol. 152A, no. 9, pp. 2254–2261, 2010.

- Allason JE. Rubinstein-TaybiSyndrome: The changing face. American Journalof Medical Genetics1990; [Suppl]6:38-41.

- M. M. Al-Qattan, A. Jarman, A. Rafique, Z. N. Al-Hassnan, and H. M. Al-Qattan, “Rubinstein-Taybisyndrome in a Saudi boy withdistinctfeaturesandvariants in boththe CREBBP and EP300 genes: a case report,” BMC Medical Genetics, vol. 20, no. 1, p. 12, 2019.

- O. Bartsch, S. Schmidt, M. Richter et al., “DNA sequencingof CREBBP demonstratesmutations in 56% ofpatientswith Rubinstein-Taybisyndrome (RSTS) and in anotherpatientwithincomplete RSTS,” Hum Genet, vol. 117, no. 5, pp. 485–493, 2005.

- O. Bartsch, K. Locher, P. Meineckeet al., “Molecular studies in 10 cases of Rubinstein-Taybisyndrome, including a mildvariantshowing a missensemutation in codon 1175 of CREBBP,” Journalof Medical Genetics, vol. 39, no. 7, pp. 496–501,

- O. Bartsch, S. Rasi, A. Delicado et al., “Evidence for a new contiguous gene syndrome, thechromosome 16p13.3 deletionsyndrome alias severe Rubinstein- Taybisyndrome,” HumanGenetics, vol. 120, no. 2, pp. 179–186, 2006.

- MARECOS, Clara; CUNHA, Manuel; CARREIRO, Helena. Rubinstein-Taybi Syndrome: new mutation. Revista Clínica do Hospital Prof. Doutor Fernando Fonseca, v. 2, p. 25-28, 2014.

- MILANI, Donatella; MANZONI, Francesca; PEZZANI, Lidia; AJMONE, Paola; GERVASINI, Cristina; MENNI, Francesca; ESPOSITO, Susanna. Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management. : clinical features, genetic basis, diagnosis, and management. Italian Journal Of Pediatrics, [s.l.], v. 41, n. 1, 2015. Springer Science and Business Media LLC. http://dx.doi.org/10.1186/s13052-015-0110-1.

- OLIVEIRA, Carlos Rogério Degrandi; ELIAS, Luciana. Anesthesia in a patient with Rubinstein-Taybi syndrome: case report. Revista Brasileira de Anestesiologia, v. 55, n. 5, p. 546-551, 2005.

- PINTO-BASTO, J. et al. Genes, children and pediatricians: Rubinstein-Taybi Syndrome. Born and Growing, n. 15 (1), p. 45-48, 2006.

- Cantani A, Gagliesi D. Rubinstein-Taybi syndrome. Review of 732 cases and analysis of the typical traits. Eur Rev Med Pharmacol Sci. 1998; 2: 81-7

- Hennekam RC. Rubinstein-Taybi syndrome. Eur J Hum Genet. 2006; 14, 981-85

- Kumar S, Suthar R, Panigrahi I, Marwaha R. Rubinstein Taybi Syndrome: clinical profile of 11 patients and review of literature. Indian J Hum Genet. 2012; 18: 161–6.

- Yagihashi T, Kosaki K, Okamoto N, Mizuno S, Kurosawa K, Takahashi T, et al. Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome. Congenit Anom. 2012; 52: 82-6.

- Levitas AS, Reid CS. 1998. Rubinstein-Taybi syndrome and psychiatric disorders. J Intellect Disabil Res 42:(Pt 4): 284–292.

- Verhoeven WM, Tuinier S, Kuijpers HJ, Egger JI, Brunner HG. 2010. Psychiatric profile in rubinstein-taybi syndrome. A review and case report. Psychopathology 43:63–68.

- Hellings JA, Hossain S, Martin JK, Baratang RR. 2002. Psychopathology, GABA, and the Rubinstein-Taybi syndrome: a review and case study. Am J Med Genet 114:190–195.

- Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA. Rubinstein-Taybi Syndrome Medical Guidelines. American Journal of Medical Genetics A. 2003; 119A: 101–10.

- Naimi DR, Munoz J, Rubinstein J, Hostoffer RW Jr. Rubinstein-Taybi syndrome: an immune deficiency as a cause for recurrent infections. Allergy Asthma Proc. 2006; 27: 281-4.

- Torres LC, Sugayama SM, Arslanian C, Sales MM, Carneiro-Sampaio M. Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome. Braz J Med Biol Res. 2010; 43: 1215-24Hellings JA, Hossain S, Martin JK, Baratang RR. 2002. Psychopathology, GABA, and the Rubinstein-Taybi syndrome: a review and case study. Am J Med Genet 114:190–195.

Downloads

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). 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. Brazilian Journal of Development, 6(8), 63905–63914. https://doi.org/10.34117/bjdv6n8-717

Issue

Section

Original Papers