Clinical characteristics of two probable cases of Angelman syndrome at the National Children's Hospital
DOI:
https://doi.org/10.51481/amc.v46i2.454Keywords:
epilepsia, retardo mental, afasia, ataxia, síndrome de AngelmanAbstract
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.
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