[Progressive myoclonic epilepsy: clinical characteristics of 18 patients].

INTRODUCTION

The term progressive myoclonic epilepsy (PME) includes a groups of heterogeneous conditions, with genetic causes, characterized by having different types of seizures, basically myoclonic, and other neurological findings due to a progressive lesion of the central nervous system.

OBJECTIVE

To demonstrate the aetiology and clinico-encephalographic changes seen in patients with PME.

PATIENTS AND

METHODS

A retrospective, descriptive study was done of patients attended for PME in the Instituto de Neurología y Neurocirugía de Cuba between 1990 and 1995. Eighteen patients were included. All were interviewed and had a physical examination, EEG and the specific complementary tests for each aetiology.

RESULTS

There was a predominance of neural ceroid lipofuschinosis in 10 patients (55.5%), and in 9 of these the illness started before the age of 9 years. The second most frequent condition was myoclonic epilepsy with red-torn fibres (16.6%) and Unverricht-Lundborg disease (16.6%). The latter began in late childhood or adolescence. The most marked clinical characteristics were epilepsy, which was difficult to control and intellectual deterioration in 100%, followed by cerebellar signs in 88.8%. Myoclonias were the commonest type of seizures (94.4%) and many children presented with prior tonic-clonic seizures (88.8%).

CONCLUSION

Response to treatment was poor but the best results were obtained using valproate either alone or associated with benzodiazepines.