Clinical and genetic studies in Cuban patients suffering from West syndrome

Authors

  • Anitery Travieso Tellez Especialista de Primer Grado en Medicina General Integral y Genética Clínica. Centro Provincial de Genética Médica. Pinar del Río.
  • Araceli Lantigua Cruz Especialista de Segundo Grado en Genética Clínica. Profesora Titular. Centro Nacional de Genética Médica. La Habana.
  • Ramiro García García Especialista de Primer Grado en Neurología y de Segundo Grado en Pediatría. Profesor Titular. Hospital Pediátrico Juan Manuel Márquez. La Habana.

Keywords:

Intantile spasms/classification/etiology/genetics.

Abstract

West Syndrome, which is classified as an epileptic encephalopathy, is associated with an ample variety of etiological factors. Up to this moment, the molecular bases of this entity have not been studied in Cuba. A cross-sectional, descriptive study of West Syndrome was conducted with the purpose of describing the main clinical and genetic characteristics of this syndrome. It included the patients diagnosed in two pediatric hospitals in Havana between January 2005 and December 2009. The study showed a high prevalence of male patients. Initially, symptomatic cases represented only 53.85 % of the sample. A positive family history of epilepsy was detected in 51.92 % of the cases and recurrence of the disease was identified in three of all families included in the study. These two results pointed to a strong genetic component in association with the development of West Syndrome. The 82.69% was found to have positive physical examination findings; among them 11.63 % presented chromosomal anomalies. Metabolic studies confirmed 17.39% of the cases with family history and/or congenital defects. At the end, the frequency of classification for the epileptic syndrome was modified to conclude the study with a 78.85 % out of the symptomatic cases. Results corroborate the importance of a genetic assessment in the evaluation and diagnosis of patients with suspected West Syndrome.

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References

1. Pal DK, Pong AW, Chung WK. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol. [Internet]. 2010 [Citado 20 de mayo de 2011]; 6(8): [Aprox. 8p.]. Disponible en: http://www.nature.com/nrneurol/journal/v6/n8/full/nrneurol.2010.92.html

2. Fois A. Infantile spasms: review of the literature and personal experience. Ital J Pediatr. [Internet]. 2010 [Citado 20 de mayo de 2011]; 36: [Aprox. 1p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2829573/?tool=pubmed

3. Shields WD. Infantile Spasms: Little Seizures, BIG Consequences. Epilepsy Curr. [Internet]. 2006 [Citado 20 de mayo de 2011]; 6(3): [Aprox. 6p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1464162/?tool=pubmed

4. Pellock MJ, Hrachovy R, Shinnar S, Baram TZ, Bettis D, Dlugos DJ, et al. Infantile spasms: A U.S. consensus report. Epilepsia. [Internet]. 2010 [Citado 20 de mayo de 2011]; 51(10): [Aprox. 14p.]. Disponible en: http://onlinelibrary.wiley.com/doi/10.1111/j.1528-1167.2010.02657.x/full

5. Auvin S, Lamblin MD , Pandit F , Vallée L , Bouvet-Mourcia A . Infantile epileptic encephalopathy with late-onset spasms: report of 19 patients. Epilepsia. [Internet]. 2010 [Citado 20 de mayo de 2011]; 51(7): [Aprox. 6p.]. Disponible en: http://onlinelibrary.wiley.com/doi/10.1111/j.1528-1167.2010.02534.x/full

6. Hino-Fukuyo N, Haginoya K, Iinuma K. Epidemiological and clinical studies of West syndrome in Miyagi Prefecture, Japan. No To Hattatsu. [Internet]. 2007 [Citado 20 de mayo de 2011]; 39(4): [Aprox. 4p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/17633081

7. Nguyen DK, Disteche CM. High expression of the mammalian X chromosome in brain. Brain Res. [Internet]. 2006 [Citado 20 de mayo de 2011]; 1126(1): [Aprox. 3p.]. Disponible en: http://www.sciencedirect.com/science/article/pii/S0006899306024565

8. Jones JR, Skinner C, Friez MJ, Schwartz Ch, Stevenson RE. Hypothesis: Dysregulation of methylation of brain-expressed genes on the X chromosome and autism spectrum disorders. Am J Med Genet. [Internet]. 2008 [Citado 20 de mayo de 2011]; 146 (17): [Aprox. 7p.]. Disponible en: http://www.utdallas.edu/~mxa049000/lessons/research/literature/Autism/new/Genemethylandautismrev%2009.pdf

9. Kitamura K, Itou Y, Yanazawa M, Ohsawa M, Suzuki-Migishima R, Umeki Y, et al. Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice. Hum Mol Genet. [Internet]. 2009 [Citado 20 de mayo de 2011]; 18(19): [Aprox. 16p.]. Disponible en: http://www.mendeley.com/research/three-human-arx-mutations-cause-lissencephalylike-mental-retardation-epilepsylike-pleiotropic-phenotypes-mice/

10. Friocourt G, Parnavelas JG. Mutations in ARX Result in Several Defects Involving GABAergic Neurons. Front Cell Neurosci. [Internet]. 2010 [Citado 20 de mayo de 2011]; 4. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2841486/

11. Dulac O, Feingold J, Plouin P, Chiron C, Pajot N, Ponsot G. Genetic predisposition to West syndrome. Epilepsia. [Internet]. 1993 [Citado 20 de mayo de 2011]; 34(4): [Aprox. 5p.]. Disponible en: http://www.ilae.org/visitors/centre/ctf/west_syndrome.cfm

12. Sugai K, Fukuyama Y, Yasuda K, Fujimoto S, Ohtsu M, Ohta H, et al. Clinical and pedigree study on familial cases of West syndrome in Japan. Brain & development. [Internet]. 2001 [Citado 20 de mayo de 2011];23(7):[Aprox. 6p.]. Disponible en: http://www.sciencedirect.com/science/article/pii/S0387760401002625

13. Arce Portillo E, Rufo-Campos M, Muñoz-Cabello B, Blanco-Martínez B, Madruga-Garrido M, Ruiz-Del Portal L, et al. Síndrome de West: etiología, opciones terapéuticas, evolución clínica y factores pronósticos. Rev Neurol. [Internet]. 2011 [Citado 20 de mayo de 2011]; 52: [Aprox.8p.]. Disponible en: http://www.neurologia.com/pdf/Web/5202/bf020081.pdf

14. Chandra PS, Salamon N, Nguyen ST. Infantile spasm-associated microencephaly in tuberous sclerosis complex and cortical dysplasia. Neurology. [Internet]. 2007 [Citado 20 de mayo de 2011]; 68(6): [Aprox. 7p.]. Disponible en: http://www.neurology.org/content/68/6/438.long

15. Campistol J, García-Cazorla A. Síndrome de West. Análisis, factores etiológicos y opciones terapéuticas. Rev Neurol. [Internet]. 2003 [Citado 20 de mayo de 2011]; 37(4): [Aprox. 7p.]. Disponible en: http://www.neurologia.com/pdf/Web/3704/p040345.pdf

16. Vigevano F, Bartuli A. Infantile epileptic syndromes and metabolic etiologies. J Child Neurol. [Internet]. 2002 [Citado 20 de mayo de 2011]; 17 (Suppl 3): [Aprox. 4p.]. Disponible en: http://web.ebscohost.com/ehost/pdfviewer/pdfviewer?sid=352915bf-e57f-449d-8d58-170ef619d185%40sessionmgr11&vid=2&hid=125

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Published

2012-05-04

How to Cite

1.
Travieso Tellez A, Lantigua Cruz A, García García R. Clinical and genetic studies in Cuban patients suffering from West syndrome. Rev Ciencias Médicas [Internet]. 2012 May 4 [cited 2025 Jul. 31];16(2):49-63. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/891

Issue

Vol. 16 No. 2 (2012)

Section

ORIGINAL ARTICLES

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