Ring chromosome 20 syndrome: Electroclinical description about one case

Abstract

Introduction: Ring chromosome 20 syndrome is a rare chromosomal disorder characterized by refractory electroclinical epilepsy syndrome, mild to moderate mental retardation, behavioural disturbances. Case report: a 2-year-old girl was referred to our department for epilepsy. Her clinical examination showed microcephaly, psychomotor development delay and facial dysmorphia. The inter-ictal EEG showed a bifrontal theta-delta activity suggesting a ring chromosome 20 syndrome. The patient was treated by acid valproic without success then levetiracetam and clonazepam which reduced the frequency of the seizures. Conclusion: The ring chromosome 20 syndrome is characterized by mental disability, behavioral disturbances and epilepsy. Ictal EEG may be helpful for the diagnosis.