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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.53 no.4 São Paulo Dec. 1995 

Myoclonic epilepsy of late onset in trisomy 21


Epilepsia mioclônica de início tardio na trissomia 21



Lm. LiI; M.F. O'donoghueII; J.W.A.S. SanderIII

IMD, Research Fellow in Clinical Neurophysiology
IIMRCP, Registrar in Clinical Neurology
IIIMD, PhD, Consultant and Senior Lecturer in Neurology




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.


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.



Texto completo disponível apenas em PDF.

Full text available only in PDF format.



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



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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: 44 (0) 1494 871927

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