Rubinstein-Taybi syndrome in the practice of children’s neurologist

Синдром Рубинштейна-Тейби в практике детского невропатолога
Yevgen Lisovskyy 1, Kenzhe Kussainova 1, Aida Raissova 2, Meiramgul Kenzhebekova 2, Galymzhan Zhylkybaev 2
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1 «Republican Children’s Rehabilitation Centre» JSC, Department of Science and Education, Astana, Kazakhstan
2 «Republican Children’s Rehabilitation Centre» JSC, Neuropsychiatric Department, Astana, Kazakhstan
J CLIN MED KAZ, Volume 2, Issue 36, pp. 39-43.
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ABSTRACT

The clinical case of Rubinstein-Taybi syndrome was observed in psychoneurological department of Republican Children’s Rehabilitation Center. The syndrome was passing behind a mask of the atonic-astatic form of children’s cerebral palsy. The main signs of this syndrome are the following: stagnation of patients in psychomotor and speech development, craniofacial dismorfism, anomalies in development of fingers. Different symptoms of other organs and systems lesion were described basing on the literature review. Data of genetic researches concerning Rubinstein-Taybi syndrome are submitted.

CITATION

Lisovskyy Y, Kussainova K, Raissova A, Kenzhebekova M, Zhylkybaev G. Rubinstein-Taybi syndrome in the practice of children’s neurologist. Journal of Clinical Medicine of Kazakhstan. 2015;2(36):39-43.

REFERENCES

  • Bochkov N.P., Klinicheskaja genetika(Clinical genetic), M: Gjeotar-Med, 2001, 448 p.
  • Geneticheskie zabolevanija u detej v nevrologicheskoj praktike, osobennosti ih diagnostiki i nasledovanija (Genetic disorders in children’s neurological practice, features of diagnostic and inheritance), Zdorov’e Kazahstana, 2015, No.3 (34), pp. 6-7.
  • Badaljan L.O., Zhurba L.T., Timonina O.V. Detskie cerebral’nye paralichi (Сhildren’s Cerebral Palsy), Kiev, Zdorov’ja, 1998, 328 p.
  • Tommerup N., van der Hagen C., Heiberg A. Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t (7;16) (q34;p13.3), Am. J. Med. Genet. A.,1992, No.44, pp.237-241.
  • Coupry I., Roudaut C., Stef M. et al. Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome, J. Med. Genet., 2002, No.39, pp. 415-421.
  • Bentivegna A., Milani D., Gervasini C. et al. Rubinstein-Taybi syndrome: spectrum of CREBBP mutations in Italian patients, BMC Med. Genet., 2006, No.7, p.77.
  • Goodman R., Smolik S. CBP/p300 in cell growth, transformation, and development, Genes Dev., 2000, No.14, pp.1553-1577.
  • Roelfsema J., White S., Ariyürek Y. et al. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease, Am. J. Hum. Genet. A., 2005, No.76, pp.572-580.
  • Woods S., Robinson H., Kohler L. et al. Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome, Am. J. Med. Genet. A., 2014, No.164 A, pp.251-258.
  • Negri G., Milani D., Colapietro P.et al. Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene, Clin. Genet., 2014, doi:10.1111/cge.12348.
  • Tajir M., Fergelot P., Lancelot G.et al. Germline mosaicism in Rubinstein–Taybi syndrome, Gene, 2013, No.518, pp.476-478.
  • Milani D., Manzoni F., Pezzani L. et al. Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics, 2015, No.41:4, doi:10.1186/s13052-015-0110-1.
  • Beets L., Rodrıguez-Fonseca C., Hennekam R.Growth charts for individuals with Rubinstein-Taybi syndrome, Am. J. Med. Genet.A., 2014, No.164, pp. 2300-2309.
  • Shah H., Singh G., Vijayan S., Girisha KM. Second report of slipped capital femoral epiphysis in Rubinstein-Taybi syndrome, Clinical Dysmorphology, 2011, No.20, pp.55-57.
  • Marzuillo P., Grandone A., Luongo C.et al.Brain magnetic resonance in the routine management of Rubinstein-Taybi syndrome (RTS) can prevent lifethreatening events and neurological deficits, Am. J. Med. Genet.A., 2014, No.164, pp. 2129-2132.
  • Parsley L.,Bellus G., Handler M., Tsai A.Identical twin sisters with Rubinstein–Taybi syndrome associated with Chiari malformations and syrinx, Am. J. Med. Genet.A., 2011, No.155, pp.2766-2770.
  • Giussani C., Selicorni A., Fossati C.The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-Taybi syndrome, Child Nerv. Syst., 2012, No.28, pp.2163-2168.
  • Fischer S., Bäzner H., Henkes H.Cervical artery dissection in a young patient with Rubinstein-Taybi syndrome, Clin. Neuroradiol., 2013, No.23, pp.41-44.
  • Penaranda A., Cerón M.: Rubinstein-Taybi syndrome and mixed bilateral hypoacousia case report, Otol. Neurotol., 2007, No.28, pp.501-503.
  • Naimi D., Munoz J., Rubinstein J., Hostoffer R.Rubinstein-Taybi syndrome: an immune deficiency as a cause for recurrent infections, Allergy Asthma Proc., 2006, No.27, pp.281-284. 
  • Schorry E., Keddache M., Lanphear N.etal.Genotype-phenotype correlations in Rubinstein-Taybi syndrome, Am. J. Med. Genet.A., 2008, No.146A, pp. 2512-2519.
  • Van Genderen M., Kinds G., Riemslag F., Hennekam R. Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature, Br. J.Ophthalmol., 2000, No.84, pp.1177-1184.
  • Bloch-Zupan A., Stachtou J., Emmanouil D. et al. Oro- dental features as useful diagnostic tool in Rubinstein-Taybi syndrome, Am. J. Med. Genet.A., 2007, No.143, pp.570-573.
  • Stevens C., Bhakta M. Cardiac abnormalities in the Rubinstein-Taybi syndrome, Am. J. Med. Genet. A., 1995, No.59. pp. 346-348.
  • Hennekam R. Rubinstein-Taybi syndrome. In Management of genetic syndromes. 3rd edition, Edited by Cassidy S., Allanson J,. Wiley-Blackwell. Hoboken, NJ., 2010, pp.705-715.
  • Kurtoglu S., Akcakus M., Gunes T. et al.Congenital hypothyroidism associated with Rubinstein-Taybi syndrome, J.Pediatr. Endocrinol. Metab., 2003, No.16, pp.457-459.
  • Isidor B., Podevin G., Camby C.et al.: Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harbouring an intragenic deletion of the CREBBP gene, Am. J. Med. Genet. A., 2010, No.152A, pp.1847-1848.
  • Choi H. Pulmonary hypertension due to obstructive sleep apnea in a child with Rubinstein-Taybi syndrome, Korean J.Pediatr., 2012, No. 55, pp. 212-214.
  • DeKort E., Conneman N., Diderich K.A case of Rubinstein-Taybi syndrome and congenital neuroblastoma, Am. J. Med. Genet. A., 2014, No.164A, pp.1332-1333.
  • Bourdeaut F., Miquel C., Richer W.et al.: Rubinstein-Taybi syndrome predisposing to non-WNT, non-SHH, group 3 medulloblastoma, Pediatr. Blood Cancer, 2014, No.61, pp.383-386.
  • Yagihashi T., Kosaki K., Okamoto N.et al.Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome, Congenit. Anom., 2012, No.52, pp.82-86.
  • Galéra C., Taupiac E., Fraisse S.et al. Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome, J. Autism. Dev. Disord., 2009, No.39, pp.1252-1260.
  • Stevens C., Pouncey J., Knowles D.Adults with Rubinstein-Taybi syndrome, Am. J. Med. Genet. A., 2011, No.155, pp.1680- 1684.