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


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%).


CONCLUSIONS
Response to treatment was poor but the best results were obtained using valproate either alone or associated with benzodiazepines.
Vistorte
A
A
Servicio de Neurología Infantil, Instituto de Neurología y Neurocirugía, La Habana, Cuba.
Sardiñas
N
N
Esteban
E M
EM
Vargas-Díaz
J
J
Novoa-López
L
L
Rojas-Massippe
E
E
Pestana
E M
EM
D000293:Adolescent; D000328:Adult; D000928:Antidepressive Agents / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D020191:Myoclonic Epilepsies, Progressive / Q000175:diagnosis* / Q000188:drug therapy; D012189:Retrospective Studies; D014635:Valproic Acid / Q000627:therapeutic use
D000928:Antidepressive Agents; D014635:Valproic Acid