Resumo

TRAVIESO TELLEZ, Anitery; LANTIGUA CRUZ, Araceli  e  GARCIA GARCIA, Ramiro. Clinical and genetic studies in Cuban patients suffering from West syndrome. Rev Ciencias Médicas [online]. 2012, vol.16, n.2, pp. 49-63. ISSN 1561-3194.

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.

Palavras-chave : INFANTILE SPASMS [classification]; INFANTILE SPASMS [etiology]; INFANTILE SPASMS [genetics].

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )