Abstract
We report the case of a 10-year-old female with a history of severe myoclonic epilepsy of infancy who presents with generalized tonic-clonic (GTC) seizures at 6 months of age after administration of a DPT vaccine, who then begins to present frequent and severe GTC seizures, myoclonic seizures and multiple refractory status epilepticus poorly controlled with first and second line anti-epileptic drugs (AEDs). This was accompanied by development delay. Studies performed on the patient included brain MRI which was normal, immunodeficiency and trombophilic studies which were normal and electroencephalographs: studies (EEG) that were at first mostly normal. The most significant findings were seen during a 12-hour video-EEG which reported epileptogenic activity in central region with bilateral dissemination and a PET-CT that showed metabolism alterations in the left temporal region. Due to this presentation a channelopathy was suspected and a coding region sequentiation study was performed which identified a frameshift mutation of the SCN1A gene confirming the diagnosis. Atipically, after 5 years the patient begins to present a favorable evolution with significant seizure remission even allowing the progressive weaning of AEDs and a remarkable stalemate of developmental delay after interdisciplinary rehabilitation process was started.
References
Wallace H, Shorvon S, Tallis R. Age-specific incidence and prevalence rates of treated epilepsy in an unselected population of 2,052,922 and age-specific fertility rates of women with epilepsy. Lancet. 1998;352:1970-73.
Engel J Jr, Wiebe S, French J, Sperling M, Williamson P, Spencer D, et al. Practice parameter: temporal lobe and localized neocortical resections for epilepsy. Neurology 2003;60:538-47.
Fisher RS, Cross JH, French JA, Higurashi N, Hirsch E, Jansen FE, et al. Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology. Epilepsia. 2017;58(4):522-30.
Medina Malo C. Epilepsia: aspectos clínicos y psicosociales. Bogotá: Ed. Médica Panamericana; 2004. pp. 109-27.
Lucarini N, Verrotti A, Napolioni V, Bosco G, Curatolo P. Genetic polymorphisms and idiopathic generalized epilepsies. Pediatr Neurol. 2007;37:157-64.
Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, et. al . Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+ 2. Nat Genet. 2000;24(4):343-5.
Akiyama M, Kobayashi K, Ohtsuka Y. Dravet syndrome: a genetic epileptic disorder. Acta Med Okayama. 2012;66(5):369-76.
Yu FH, Mantegazza M, Westenbroek RE, Robbins CA, Kalume F, Burton KA, et al. Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci. 2006;9(9):1142-9.
Scheffer IE., Berkovic SF. "Generalized epilepsy with febrile seizures plus". A genetic disorder with heterogeneous clinical phenotypes. Brain. 1997;120(3):479-90.
Dravet C. Les epilepsies graves de l'enfant. Vie Med. 1978;8:543-548.
Takayama R, Fujiwara T, Shigematsu H, Imai K, Takahashi Y, Yamakawa K, Inoue Y. Longterm course of Dravet syndrome: a study from an epilepsy center in Japan. Epilepsia. 2014;55(4):528-38.
Sánchez L, Rojas C, Solarte R, Camacho I, Cornejo W. Caracterización clínica y electroencefalográfica de pacientes con epilepsia generalizada genética, evaluados en el Centro Especializado CEC- LAB IPS Universitaria de Antioquia 2010 - 2012: estudio descriptivo retrospectivo. Acta Neurol Colomb. 2016; 32(1):18-26.
Guzzetta F. Cognitive and behavioral characteristics of children with Dravet syndrome: an overview. Epilepsia. 2011;52(2):35-8.
Sánchez-Carpintero R. Cognitive development in Dravet's syndrome as a model of epileptic encephalopathy. Rev Neurol. 2013;56(1):S147-51.
Jansen FE, Sadleir LG, Harkin LA, Vadlamudi L, McMahon JM, Mulley JC, et al. Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults. Neurology. 2006;67(12):2224-6.
Genton P, Velizarova R, Dravet C. Dravet syndrome: the long-term outcome. Epilepsia. 2011;52(2):44-9.
Kim YO, Bellows S, McMahon JM, lona X, Damiano J, Dibbens L, et al. Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline. Dev Med Child Neurol. 2014;56(1):85-90.
Akiyama M, Kobayashi K, Yoshinaga H, Ohtsuka Y. A long-term follow-up study of Dravet syndrome up to adulthood. Epilepsia. 2010;51:1043-52.
Ragona F, Granata T, Dalla Bernardina B, Offredi F, Darra F, Battaglia D, et al. Cognitive development in Dravet syndrome: a retrospective, multicenter study of 26 patients. Epilepsia. 2011;52(2):386-92.
Guerrini R, Cellini E, Mei D, Metiteri T, Petrelli C, Pucatti D, et al. Variable epilepsy phenotypes associated with a family intragenic deletion of the SCNA1 gene. Epilepsia. 2010;51:2474-7.
Osaka H, Ogiwara I, Mazaki E, Okamura N, Yamashita S, Lai M, et al. Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation. Epilepsy Res. 2007;75(1):46-51.
Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mmenguarori M, et al. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol Psychiatry. 2003;8(2):186-94.
Sánchez-Carpintero R. Diagnóstico temprano del síndrome de Dravet: aportaciones de la clínica y la biología molecular. Rev Neurol. 2011;52: 681-8.
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.