Lafora body disease: a case of progressive myoclonic epilepsy.
BMJ Case Rep
; 13(12)2020 Dec 22.
Article
in En
| MEDLINE
| ID: mdl-33370974
ABSTRACT
Progressive myoclonic epilepsy (PME) is a progressive neurological disorder. Unfortunately, until now, no definitive curative treatment exists; however, it is of utmost importance to identify patients with PME. The underlying aetiology can be pinpointed if methodological clinical evaluation is performed, followed by subsequent genetic testing. We report a case of PME that was diagnosed as Lafora body disease. This case emphasises that, suspecting and identifying PME is important so as to start appropriate treatment and reduce the probability of morbidity and prognosticate the family.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Lafora Disease
/
Cognitive Dysfunction
/
Anticonvulsants
Type of study:
Prognostic_studies
Limits:
Adolescent
/
Humans
/
Male
Language:
En
Year:
2020
Type:
Article