抄録
The present case was a 24-year-old man with hereditary factor. He was the offspring of a consanguineous marrige between cousins. His brother died of the same disease at the age of 29 years. The youth developed well physically and mentally. The first convulsive seizure occured at the age of 15. He developed an ataxic gait, speech disturbance, dementia and myoclonic jerks were noted occasionally in the face and extremities. Convulsive seizure occured very frequently despite anticonvulsant chemotherapy.
He gradually fell into severe dementia, was bedridden and totaly incontinent. He died after about 9 years from the onset.
Histopathologically the Lafora-body was found in all areas of the brain, especially in the substantia nigra, the nucleus dentata cerebelli, globus pallidus and occipital lobe. The degenerative substance was found in the myocardium and liver cells.
Electroencephalographical, histopathological, electronmicroscopical and biochemical investigation were carried out in this case. Clinicopathologically, it revealed a typical myoclonus epilepsy (Lafora-body type).
Regarding about pathogenesis of Lafora disease, polyglucosan metabolism disorder was discussed.
