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Revista chilena de pediatría

versión impresa ISSN 0370-4106

Resumen

HERNANDEZ CHAVEZ, Marta; MESA LATORRE, Tomás; PEDRAZA HERRERA, Mariela  y  TRONCOSO SCHIFFERLI, Mónica. Complex febrile Seizures or Dravet syndrome?: Description of 3 case reports. Rev. chil. pediatr. [online]. 2014, vol.85, n.5, pp.588-593. ISSN 0370-4106.  http://dx.doi.org/10.4067/S0370-41062014000500010.

Introduction: Dravet syndrome (DS) is one of the most intractable forms of epilepsy that begins in infancy. This syndrome is characterized by beginning with complex febrile seizures (FS) in a healthy infant and progresses to refractory epilepsy with psychomotor regression. The detection of a SCN1A mutation encoding the sodium channel can confirm the diagnosis. Objective: To report 3 confirmed cases of genetically DS. Case reports: We describe 3 girls diagnosed with complex FS that started when they were between 2 and 7 months old. FS were frequent, hemi generalized and myoclonic associated with recurrent febrile status epilepticus (SE). Despite FS and SE recurrence, the psychomotor development, electrophysiological studies and magnetic resonance imaging (MRI) of the brain were normal. After a year, they developed afebrile seizures progressing to refractory epilepsy with developmental regression. A molecular study detected SCN1A mutation confirming DS. The specific antiepileptic treatment and prevention of febrile episodes allowed partial control of epilepsy with some recovery of psychomotor skills. Conclusions: The high frequency complex FS associated with recurrent SE in a previously healthy infant should alert about the possibility of DS. Molecular diagnostics helps us to establish a drugs and non-drug therapies treatment, as well as long-term prognosis and genetic counseling.

Palabras clave : Dravet syndrome; febrile seizures; status epilepticus; severe myoclonic epilepsy in infancy; SCN1A.

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