ラフォラ病 (ミオクロヌスてんかんLafora型) についての最近の知見

抄録

A case of Lafora's disease was reported. The clinical course could be divided into four stages as follows. The first stage or subclinical stage began at about the age of 7, and during this stage the electroencephalogram abnormality without clinical seizure was shown. Its duration was about 3 years. In the second atage appeared some change in personality. The duration was 1-2 years. The third stage began with the onset cf epileptic seizures. During this stage the clinical course were progressive though slow. The epileptic and myoclonic seizures, cerebellar signs and dementia developed with occasional remission. Its duration was about 6-7 years. The course of the fourth or end stage was rapid. The status epilepticus or status myoclonicus developed. This stage lasted for about four years. The patient died the age of 19.
Autopsy was performed. The Lafora's bodies in the central nervous tissue, and the PAS-positive deposits in the cytoplasm of liver cells and in the heart muscle were observed.