ABSTRACT
It was first described by Charlotte Dravet in 1978 and has been recognized as a syndrome by the International League Against Epilepsy since 1989. It starts in the first year of life frequently with febrile seizures [FS] in an, otherwise, normal infant. This is followed by refractory and mixed type of seizures. [Dravet's syndrome] [DS] previously named severe myoclonic epilepsy of infancy [SMEI], or epilepsy with polymorphic seizures. DS is caused by a mutation in the neuronal sodium channel gene, SCN1A, that is also mutated in generalized epilepsy with FS+ [GEFS+]
Subject(s)
Humans , Male , Epilepsies, Myoclonic/history , Epilepsies, Myoclonic/genetics , Seizures , Epilepsy , Social Change , Electroencephalography , Magnetic Resonance SpectroscopyABSTRACT
Los cuerpos de poliglucosán (CPG), se encuentran en diversas entidades patológicas e incluso en condiciones normales. Su hallazgo en biopsia, cerebrales de pacientes con epilepsia mioclónica progresiva es diagnóstico de enfermedad de Lafora, siendo también encontrados en hígado, músculo esquelético, músculo cardíaco y piel. Presentamos los hallazgos clínicos, gistoquímicos, inmunohistoquímicos y ultraestructurales de la biopsia cerebral de un paciente masculino de 18 años de edad, en el que clínicamente se sospechó la enfermedad