Epilepsy and ring chromosome 20: case report

We present the clinical, electroencephalographic, neuroimaging (brain magnetic resonance image - MRI and spectroscopy by MRI) and cytogenetic findings of a young male patient with a rare cytogenetic anomaly characterised by a de novo 46,XY,r(20)(p13q13.3) karyotype. He presents with mental retardation, emotional liability, and strabismus, without any other significant dysmorphies. There are brain anomalies characterised by corpus callosum, uvula, nodule and cerebellum pyramid hypoplasias, besides arachnoid cysts in the occipital region. He had seizures refractory to pharmacotherapy and long period of confusional status with or without a motor component. The authors recognised that the EEG pattern was not fixed but changed over time, specially for bursts of slow waves with great amplitude accompanied or not by sharp components, and bursts of theta waves sharply contoured. Previously, epilepsy solely has been assigned to region 20q13. However, the important structural cerebral alterations present in our case has not been reported associated to such chromosomal abnormality and may indicate possible new chromosomal sites where such atypical neurological characteristics could be mapped

Epilepsia: conceito, classificaçäo e diagnóstico / Epilepsy: concept, classification and diagnosis

Esta revisão enfoca apenas aspectos práticos da epilepsia relativos ao seu conceito, diagnóstico diferencial, classificações e exames complementares, especialmente os eletrográficos. Enfatíza-se a importância e limitação de: anamnese; classificações dos tipos e síndromes propostas pela Liga Internacional contra epilepsia, a última de especial importância prognóstica; diagnóstico diferencial, com o reconhecimento das crises epiléticas das não epiléticas, estas orgânicas ou psicogênicas; eletroencefalograma (EEG), EEG ambulatorial associado ou não ao eletrocardiograma, mapeamento cerebral, vídeo-EEG e dosagem sérica de prolactina.