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Acta Médica Costarricense
versión On-line ISSN 0001-6002versión impresa ISSN 0001-6012
Resumen
MIDENCE CERDA, Marvin y BRIAN GAGO, Roberto. Características clínicas de dos probables casos de síndrome de Angelman en el Hospital Nacional de Niños. Acta méd. costarric [online]. 2004, vol.46, n.2, pp.88-90. ISSN 0001-6002.
Justification and objective: Angelman syndrome is a severe neurological disorder. No other case has been reported in our country until now. Methodos: We report two children with the clinical suspicion of Angelman syndrome. They were treated at the Childrens National Hospital Neurology Department. The information was taken from their medical records. Resultd: the two patients present the four cardinal clinical features, including severe developmental delay, profound speech impairment, ataxia and a happy, sociable disposition. In addition, the patients displayed other characteristics: seizures associated with a typical spike and slow wave activity on EEG an love for water. Conclusion: The clinical diagnosis is difficult because other disorders can mimic the features of Angelman Syndrome. Nonetheless, at an early age, the behavioral phenotype of happy disposition and hyperexcitability is the most important manifestation and appears to be decisive in the differential diagnosis of patients with psychomotor and language delay.
Palabras clave : epilepsia; retardo mental; afasia; ataxia; síndrome de Angelman.