SciELO - Scientific Electronic Library Online

 
vol.53 issue4Brown-Vialetto-van Laere syndrome: report of two casesRomberg's facial hemiatrophy: case report author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Journal

Article

Indicators

Related links

Share


Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

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

https://doi.org/10.1590/S0004-282X1995000500014 

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

 

 


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.


 

 

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).

 

REFERENCES

1. Baird PA, Dadovinick AD. Life expectancy in Down syndrome adults. Lancet 1988; 2:1354-1356.         [ Links ]

2. Crapper DR, Dalton AJ, Skopitz M, Scott JW, Hachinski VC. Alzheimer degeneration in Down syndrome: electrophysiologic alterations and histopathologic findings. Arch Neurol 1975; 32:618-623.         [ Links ]

3. EHingson RJ, Eisen JD, Ottersberg G. Clinical electroencephalographic observations on institutionalized mongoloids confirmed by karyotype. Eletroenceph clin Neurophysiol 1973; 34:193-196.         [ Links ]

4. Evenhuis H. The natural history of dementia in Down's syndrome. Arch Neurol 1990; 47:263-267.         [ Links ]

5. Genton P, Paglia G. Epilepsie myoclonique senile? Myoclonies epileptiques d'apparition tardive dans le syndrome de Down. Epilepsies 1994; 1:5-11.         [ Links ]

6. Genton P, Paglia G. Senile myoclonic epilepsy: late onset of myoclonic seizures associated with dementia in three Down syndrome patients. Epilepsia 1994; 35 (Suppl 8):sl3.         [ Links ]

7. George-Hyslop PH, Tanzi RE, Polinsky RJ, Haines JL, Nee L, Watkins PC, Myers RH, Feldman RG, Pollen D, Drachman D, Growdon J, Bruni A, Foncin JF, Salmon D, Frommelt P, Amaducci L, Sorbi S, Piacentini S, Stewart G, Hobbs WJ, Conneally PM, Gusella JF. The genetic defect causing familial Alzheimer's disease maps on chromosome 21. Science 1987 ;235:885-890.         [ Links ]

8. Hauser WA, Morris ML, Heston LL, Anderson VE. Seizures and myoclonus in patients with Alzheimer's disease. Neurology 1986; 36:1226-1230.         [ Links ]

9. Lai F, Williams RS. A prospective study of Alzheimer disease in Down syndrome. Arch Neurol 1989; 46:849-853.         [ Links ]

10. Malafosse A, Lehesjoki AE, Genton P, Labauge P, Durand G, Tassinari CA, Dravet Ch, Michelucci R, de la Chapelle A. Identical genetic locus for Baltic and Mediterranean myoclonus. Lancet 1992; 339:1080-1081.         [ Links ]

11. McVicker RW, Shanks OEP, McClelland RJ. Prevalence and associated features of epilepsy in adults with Down's syndrome. Br J Psychiatry 1994; 164:528-532.         [ Links ]

12. Pueschel SM, Louis S, McKnight P. Seizure disorders in Down syndrome. Arch Neurol 1991; 48:318-320.         [ Links ]

13. Seppalainen AM, Kivalo E. EEG findings and epilepsy in Down's syndrome. J Ment Defic Res 1967; 11:116-125.         [ Links ]

14. Tangye SR. The EEG and incidence of epilepsy in Down's syndrome. J Ment Defic Res 1979; 23:17-24.         [ Links ]

15. Veall RM. The prevalence of epilepsy among mongols related to age. J Ment Defic Res 1974; 18:99-106        [ Links ]

16. Wisniewski KE, Dalton AJ, McLachlan C, Wen GY, Wisniewski HM. Alzheimer's disease in Down's syndrome: clinicopathologic studies. Neurology 1985; 35:957-961.         [ Links ]

 

 

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

Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License