[Progressive myoclonic epilepsy in the department of neurology of the University Teaching hospital Point "G"]. / EPILEPSIES MYOCLONIQUES PROGRESSIVES AU SERVICE DE NEUROLOGIE DU CENTRE HOSPITALIER UNIVERSITAIRE DU POINT "G".
Mali Med
; 37(2): 17-21, 2022 07 08.
Article
em Fr
| MEDLINE
| ID: mdl-36945313
ABSTRACT
Background:
Progressive Myoclonic Epilepsy (PME) is a heterogeneous group of pathologies associating epileptic seizures and other neurological and non-neurological disorders.Objectives:
We aim to characterize patients with symptoms of PME and identify the underlying genetic disorder.Methods:
After informed consent, the patients seen in the protocol for hereditary neurological diseases and presenting signs of epilepsy without a secondary cause were clinically evaluated over a three-year period in the Department of Neurology of the CHU Point "G". EEG, brain imaging and laboratory tests were performed to consolidate our diagnosis. DNA was extracted for genetic analysis.Results:
141 families including five families with PME totaling eight cases were enrolled. The predominant symptoms in our patients were myoclonus in 87.5% (N = 8), followed by GTCS and cognitive impairment in 50%, each. A notion of parental consanguinity was found in 60% and autosomal recessive transmission evoked in 80% (N = 5). The EEG was pathological in 62.5% and imaging showed ponto-cerebellar atrophy in 25% (N = 8). The combination of sodium valproate and clonazepam was the main treatment. One case of death was recorded.Conclusion:
We report cases of PME in Mali with a possibility of discovering new genes.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Epilepsias Mioclônicas Progressivas
/
Síndrome de Unverricht-Lundborg
/
Epilepsia
/
Neurologia
Tipo de estudo:
Diagnostic_studies
/
Guideline
/
Prognostic_studies
Limite:
Humans
Idioma:
Fr
Ano de publicação:
2022
Tipo de documento:
Article