SUMMARY -We report the case of a patient with trisomy 21 (T21) with late onset epilepsy. The electroclinical features were of myoclonic jerks on awakening and generalised tonic clonic seizures, with generalised spike and wave on EEG, and a progressive dementia. As familial Alzheimer's dementia and progressive myoclonic epilepsy (Unverricht-Lundborg type) are both linked to the chromosome 21, this case may represent a distinct progressive myoclonic epilepsy related to T21.KEY WORDS: myoclonic epilepsy, Down's syndrome, trisomy 21. Epilepsia mioclônica de início tardio na trissomia 21RESUMO -Pacientes com trissomia do cromossoma 21 (T21), com o passar dos anos, são propensos a desenvolver crises epilépticas parciais concomitantes ao aparecimento de degeneração cerebral do tipo Alzheimer. Pacientes com T21 e demência parecem ter risco maior de apresentarem crises epilépticas que outros pacientes com degeneração cerebral do tipo Alzheimer. O caso relatado é de um paciente com T21 com epilepsia de início tardio. A história clínica consiste de crises mioclônicas ao despertar, ocasionais crises generalizadas tônico-clônicas, demência e ponta onda generalisada no EEG. Demência do tipo Alzheimer familial é ligada ao cromossoma 21, bem como epilepsia mioclônica progressiva (tipo Unverricht-Lundborg). Isto sugere que este caso possa representar um tipo distinto de epilepsia mioclônica progressiva, ligado ao cromossoma 21. PALAVRAS -CHAVE: epilepsia mioclônica, síndrome de Down, trissomia do cromossoma 21.Patients with trisomy 21 (T21) have a higher prevalence of epilepsy than the general population 111215 . Amongst T21 patients, the onset of epilepsy has a bimodal distribution, being more common in early childhood and after the third decade 1215 . A dementia of the Alzheimer type is frequent in T21, specially after the fourth decade of life 916 . This has become more apparent as the life expectancy of T21 has increased over recent years 1 . Partial seizures are the commonest type of seizures described in late onset epilepsy in patients with T21 4 -111215 . However, Genton and Paglia 5 -5 have recently reported three patients with T21 with late onset epilepsy, whose clinical features included myoclonic jerks on awakening and tonic clonic seizures. We report here a similar case.
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