Myoclonic epilepsy of late onset in trisomy 21

Epilepsia mioclônica de início tardio na trissomia 21

Myoclonic epilepsy of late onset in trisomy 21

Epilepsia mioclônica de início tardio na trissomia 21

Lm. Li^I; M.F. O'donoghue^II; J.W.A.S. Sander^III

^IMD, Research Fellow in Clinical Neurophysiology

^IIMRCP, Registrar in Clinical Neurology

^IIIMD, PhD, Consultant and Senior Lecturer in Neurology

SUMMARY

We report the case of a patient with trisomy 21 (T21) with late onset epilepsy. The electro-clinical 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.

RESUMO

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.

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Acknowledgement - LLM is supported by a generous grant from the National Society Epilepsy (UK).

Aceite: 20-junho-1995.

Li Li Min, M.D. - The National Society for Epilepsy, Chalfont Centre for Epilepsy, Chalfont St. Peter - Gerrards Cross, SL9 ORJ, United Kingdom. FAX: [phone]

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Publication Dates

• Publication in this collection
  08 Dec 2010
• Date of issue
  Dec 1995