Marleide da Mota Gomes

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.

OBJECTIVE: To carry out a prevalence study about epileptic seizures and epilepsy in an urban low-income population. METHOD: Prevalence study in a two-phase model: screening and diagnosis confirmation. It was applied a structured questionnaire in 982 people all effectively resident on March 1rst 2000 based on a population census previously carried out by the Nurse Faculty. One neurologist interviewed all the suspected cases. RESULTS: It was detected 176 suspected cases of epileptic seizures: 156 with non-epileptic events, and 20 with epileptic seizures. The lifetime point prevalence was of 16.3 cases per 1000 inhabitants, and of active epilepsy, 5.1 / 1000. If we consider false negative diagnosis from the screening procedures, the lifetime point-prevalence rates until 20.8/1000. CONCLUSION: The prevalence data of epilepsy shows less impressive than in other Latin-American studies and even some Brazilian, but similar to other Brazilian studies. This suggests geographical diversity and/or methodological differences among studies. Anyway, probably the epilepsy prevalence in Rio de Janeiro is not so high as that found in the Latin countries rural areas.