Licourt OD, Travieso TA

Language: Spanish
References: 12
Page: 63-72
PDF size: 175.77 Kb.

ABSTRACT

Introduction: epilepsy occupies the second place among neurological diseases in childhood and it provokes affectations in the emotional, cognitive and social spheres of epilepsy sufferers, as well as in their familial context.
Objective: to design a strategy of genetic assessment in West’s syndrome.
Material and Method: a descriptive and cross-sectional study was conducted in patients suffering from West’s syndrome attended at Provincial Medical Genetics Center in Pinar del Rio from January 1, 2010 - August 31, 2011.
Results: West’s syndrome prevailed in male sex and the onset of symptoms by 4 and 6 months. A high correspondence was found between diagnosis of the disease and the identification of positive prenatal history. Threatened abortion, preterm labor and neonatal hypoxia were the perinatal causes ascribed to the development of the disease. Dysmorphological physical examination was positive in the majority of patients and it provided elements that helped with diagnosis of cases without presenting a definite etiology. Metabolic and chromosomal tests were valuable to perform the etiological identification of West’s syndrome. A strategy to carry out the genetic assessment for West’s syndrome patients was designed.
Conclusions: West’s syndrome characterization following the protocols of study eased a comprehensive management which allowed the identification of causes and the design of a strategy to complete the genetic assessment of children suffering from this disease.

REFERENCES

1. Pascual GJ, Oliver LS, Marrero MP, García GR, Borbolla VL, García MD. Editores. Pediatría. Vol. 4. Ciudad de la Habana: Editorial Pueblo y Educación; 1999.

2. Gurnet CA, Hedera P. New ideas in epilepsy genetics: novel epilepsy genes, copy number alterations, and gene regulation. Arch Neurol 2007; 64(3): 324-8.

3. Lúthvígsson P, Olafsson E, Sigurthardóttir S, Hauser WA. Epidemiologic features of infantile spasms in Iceland. Epilepsia[en línea]. 1994[fecha de acceso 21 de noviembre de 2010]; 35(4):802-5. Disponible en: http://hinari-gw.who.int/whalecomonlinelibrary.wiley.com/

4. Hino-Fukuyo N, Haginoya K, Iinuma K. Epidemiological and clinical studies of West syndrome in Miyagi Prefecture, Japan. No To Hattatsu[en línea]. 2007[fecha de acceso 13 de marzo de 2010]; 39(4):257-61. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed

5. Laumonnier F, Cuthbert PC, Seth GN. The Role of Neuronal Complexes in Human X-Linked Brain Diseases. Am J Hum Genet. [en línea]. 2007 February[fecha de acceso 12 de junio de 2010]); 80(2): 205-220. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed

6. Hamano S, Tanaka M, Mochizuki M. Long term follow up study of West syndrome: differences of outcome among symptomatic etiologies. J Pediatr[en línea]. 2003[fecha de acceso 29 de diciembre de 2009]; 143:231-235. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed

7. Sisodiva S, Cross JH, Blumcke I. Genetics of epilepsy: Epilepsy Research Foundation workshop report. Epileptic Disord 2007; 9(2): 194-236.

8. Hansen CP, Moller R, Tumer Z. The genetic basis of epilepsy. The Danish Epilepsy Society. Ugeskr Laeger 2007; 169(12): 1102.

9. Sarit Avishai-Eliner, Brunson KL, Sandman CA, Baram TZ. Stressed-out, or in (utero)? Trends Neurosci[en línea]. 2002[fecha de acceso 3 de abril de 2010]; 25(10): 518-524. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed

10. Cottrell EC, Seckl JR. Prenatal Stress, Glucocorticoids and the Programming of Adult Disease. Behav Neurosci. 2009; 3: 19

11. González AE, Díaz A, Díaz-Anzaldúa A. La epigenética y los estudios en gemelos en el campo de la psiquiatría. Salud Mental 2008; 31:229-37.

12. Osborne JP, Lux AL, Edwards SW, Hancock E, Johnson AL, Kennedy CR, et al. The underlying etiology of infantile spasms (West syndrome): Information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification. Epilepsia[en línea]. 2010 [fecha de acceso 1 de diciembre de 2010]; 51(10):2168-2174. Disponible en: http://hinari-gw.who.int/whalecomonlinelibrary.wiley.com.