ABSTRACT
Lafora's disease is a progressive myoclonus epilepsy and must be evocated if myoclonus, occipital seizures and progressive cognitive impairment are present. We report the case of a 14-year-old boy who suffered from several occipital seizures and two generalised seizures. The diagnosis of Lafora's disease was made six years after these inaugural symptoms because of occurrence of myoclonus, aggravation of the epilepsy with paharmacoresistance and psychic deterioration. Axila sweat gland duct biopsy was performed to conclude to the disease. A mutation was found on the gene EPM2A. Lafora's disease is a genetic autosomal-recessive pathology. Two genes have been recently identified. They code for two proteins, malin and laforin, involved in glycogen metabolism in the cellular endoplasmic reticulum. Mutations of these genes are responsible for intracytoplasmic polyglucosan inclusions called Lafora bodies and pathognomonic of the disease.
Subject(s)
Lafora Disease/genetics , Adolescent , Anticonvulsants/therapeutic use , Carrier Proteins/metabolism , Electroencephalography , Humans , Lafora Disease/drug therapy , Lafora Disease/pathology , Male , Mutation/genetics , Protein Tyrosine Phosphatases, Non-Receptor/genetics , Sweat Glands/pathology , Ubiquitin-Protein LigasesABSTRACT
The aim of this report is to review the indication and the practical use of the antiepileptic drugs in patients with cerebral lesions. The use of antiepileptic drugs to treat seizure or status epilepticus in an emergency is well catalogued and reported in this paper. Practical use of antiepileptic drugs, after a first seizure or to prevent a seizure, in patients with a cerebral lesion, is controversial. The question of antiepileptic drugs in seizures and in prophylaxis is discussed in different types of cerebral lesions: head injury, stroke, cerebral arteriovenous malformation and cerebral tumour.
Subject(s)
Anticonvulsants/therapeutic use , Seizures/etiology , Seizures/prevention & control , Emergency Medical Services , Humans , Status Epilepticus/drug therapy , Status Epilepticus/etiology , Status Epilepticus/prevention & controlABSTRACT
The role of cholesterol in the pathogenesis of stroke, the role of the treatment of hypercholesterolemia in the prevention of stroke have been controversed. The explanation was based on the heterogenous characteristics of stroke, on the relationship between several risk factors, and on the role of the age, in the evaluation of these 2 questions. The discovery of statins induced major therapeutic trials whose aim was the impact on coronary events. These trials demonstrated that statins were accompanied with a major reduction of cholesterol levels and stroke events similar to the one observed with coronary events. Even prospective, placebo controlled, randomized specific trials for stroke are necessary, we can state that cholesterol reduction is the most important mechanism accounting for a decrease in stroke occurrence with statins.
