Gen SCN1A, Epilepsias Genéticas (Sindrome de DRAVET), Correlato Genotipo / Fenotipo / The SCN1A gene, congenital epilepsies (Dravet syndrome), genotype/phenotype correlations

Las mutaciones del Gen SCN1A están asociadas a varios síndromes epilépticos con presentaciones clínicas superpuestas y de variable severidad a saber: Epilepsia Severa Mioclonica de la Infancia o Síndrome de Dravet,Epilepsia Generalizada con Convulsiones Febriles Plus, formas más leves de Sindrome de Dravet, la Epilepsia Intratable con Convulsiones Generalizadas Tonico-Clonicas y raros casos de Migraña familiar. Todas estas formas clínicas representan el 90% de los casos de mutación del gen SCN1A; recientemente se han incluido la Epilepsia Focal y Generalizada Criptogenética, la Mioclónica–Astática, formas del Síndrome de Lennox-Gastaut y la forma severa de Epilepsia Multifocal Infantil (Epilepsia Migratoria o Multifocal Severa de la Infancia). El objetivo de la presentación de estos tres casos de Epilepsia Refractaria Precoz es enfatizar los Fenotipos variables en la evolución de la semiología convulsiva, y del compromiso cognitivo, asociado a genotipos variables (compromiso de alelos diferentes en el mismo Gen). Se debe sospechar compromiso del Gen SCN1A en toda Encefalopatía Epiléptica con convulsiones febriles de comienzo en el 1er año de vida repetidas, en muchas ocasiones, prolongadas o en ramilletes, refractarias al tratamiento médico, con neuroimagenes y EEG normales en el inicio del trastorno convulsivo aunque la regresión psicomotora ocurra años después o las mioclonias estén ausentes y en quienes la vulnerabilidad a la fiebre o a los estados infecciosos leves precipitan convulsiones

Mutations in the SCN1A gene are associated with different epi-lepsy syndromes with overlapping clinical presentations and of variable severity, such as severe myoclonic epilepsy in infancy or Dravet syndrome, generalized epilepsy with febrile seizures plus, milder forms of Dravet syndrome, refractory epilepsy with generalized tonic-clonic seizures, and rare cases of familial migraine. In 90% of all these clinical presentations SCN1A mutations are found. More recently, cryptogenic focal and ge-neralized epilepsy, myoclonic–astatic epilepsy, different types of Lennox-Gastaut syndrome, and the severe form of infantile multifocal epilepsy (migrating partial seizures or severe infanti-le multifocal epilepsy) have also been included. The aim of the presentation of these three cases of early refractory epilepsy was to emphasize the variable phenotypes in the evolution of seizure semiology and the cognitive involvement associated with variable genotypes (involvement of different alleles of the same gene). SCN1A-gene involvement should be suspected in the face of all epileptic encephalopathies...

Epilepsia atônica como causa de quedas em uma paciente idosa / Atonic epilepsy as a cause of falls in an elderly patient

Os autores relatam o caso de uma senhora de 92 anos, internada no Hospital Governador Israel Pinheiro do IPSEMG com história de episódios intermitentes de quedas, iniciados há cerca de 40 anos (sic), sem causa determinada até então. Concluem, a partir de cuidadosa investigação clínica e da prova terapêutica com o anticonvulsivante fenitoína, que as quedas são devido a convulsões atônicas, forma incomum, pouco suspeitada, de epilepsia

Here we report the case of a 92 year-old lady with a history of frequent falls that began about 40 years ago without a clear aetiology until present. Based on a careful clinical investigation and a challenge with phenytoin we concluded that atonic seizures, an uncommon and therefore little suspected type of seizure, were the cause of the frequent falls in this lady

Bilateral posterior fracture dislocation of the shoulders following seizure

Bilateral posterior fracture dislocation is a rare injury known to be associated with seizures. Convulsion was found to be the cause of fracture dislocation in 78% of the cases reported. The mechanism of injury was described by Shaw in 1971. The management depends largely on the severity of the injury. In many cases reported, the fracture was a large compression defect in the anteromedial aspect of the articular surface of the humeral head. It has been suggested that for defects that involve less than 20% of the articular surface closed reduction can be attempted. Rush nail or percutaneous K wires can be used to maintain reduction. Open reduction is necessary for defects that are involving 20-40% of the surface. The aim in these cases is to reconstruct the proximal humerus if possible by the use of internal fixation. If reconstruction is not feasible, a modified McLaughlin procedure can be used to prevent chronic instability of the shoulder. This procedure involves re-implanting the subscapularis tendon into the defect. Reconstructing fractures that involve more than 40% of the articular surface or 4-part fracture is not usually successful. These fractures are associated with a high the risk of avascular necrosis. Hemi-arthroplasty or total shoulder replacement is generally regarded as better option as they offer rapid recovery and eliminate the possibility of multiple procedures if fixation fails

Postictal mania following primary generalized seizures.

A 29 year old male with primary generalized seizures for 13 years stopped his anticonvulsants leading to an increase in seizure frequency. Five months later he developed a severe manic episode postictally which responded well to a combination of neuroleptics and anticonvulsants. Postictal psychoses usually follow complex partial seizures. Manic episodes are uncommon. This case had some similarities with other cases of postictal psychoses reported previously. It underlines the need for further investigation of several facets of this complex relationship between mood disorders and epilepsy.