H. Hattori et al., EARLY-CHILDHOOD PROGRESSIVE MYOCLONUS EPILEPSY PRESENTING AS PARTIAL SEIZURES IN DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY, Epilepsia, 38(3), 1997, pp. 271-274
Purpose: We explored the characteristics of epileptic seizures of prog
ressive myoclonus epilepsy (PME) in 2 brothers with dentatorubral-pall
idoluysian atrophy (DRPLA). Methods: We obtained the case history of t
he siblings and ictal and interictal EEGs. Postmortem examination or d
emonstration of elongated CAG repeat in the gene for DRPLA was used to
confirm the diagnosis. Results: Two Japanese siblings developed PME c
haracterized by versive or himiclonic seizures with or without seconda
rily generalized tonic-clonic convulsions. The elder brother regressed
mentally and exhibited increasing spasticity after age 1 year. Myoclo
nus and seizures developed at age 4 years. The younger brother had sho
wn psychomotor retardation before age 4 years, when he began to deteri
orate further neurologically as the elder brother had. He also develop
ed myoclonus and seizures at that age. Seizures in both patients remai
ned partial until their deaths at ages 19 and 15 years, respectively.
Ictal EEG verified partial onset of seizure evolving to generalized to
nic-clonic seizure (GTCS). Interictal EEGs showed multifocal paroxysma
l discharges with little or no diffuse paroxysms. Postmortem examinati
on or genetic study confirmed the diagnosis of DRPLA. Conclusions: Sei
zures of patients with DRPLA may present as partial seizures in childr
en with early-onset PME.