Abstract

LICOURT OTERO, Deysi  and  TRAVIESO TELLEZ, Anitery. A strategy of genetic assessment in West’s syndrome. Rev Ciencias Médicas [online]. 2013, vol.17, n.1, pp.63-72. ISSN 1561-3194.

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.

Keywords : Infantile spasm etiology [diagnosis]; Epilepsy [classification]; Epilepsy [diagnosis].

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