ミオクローヌスてんかん（変性型）の1剖検例—ミオクローヌスの発現機序についての考察

ONE AUTOPSY CASES OF MYOCLONUS EPILEPSY (DEGENERATIVE FORM):A DISCUSSION FOR THE MECHANISM OF MYOCLONUS

I．はじめに

　ミオクローヌスてんかんは，病理組織学的に，ラフォラ型，変性型，リピドージス型，特殊型が知られている^1）。神経細胞に蓄積物質のみられる封入体型については，組織化学的にもその本態が明らかにされつつある^32,35,36）。しかしながらその主要な1臨床症状であるミオクローヌスの発現機序については不明な点が多い。

　われわれは，20歳の時に痙攣発作で発病し，全経過7年で死亡した変性型を経験したので，その臨床経過，経時的脳波所見，剖検所見について報告し，ミオクローヌス，ならびに多棘波の発現機序について，若干の考察を加えた。

One autopsy case with myoclonus epilepsy (de-generative form) was reported. Two elder brothers of this patient had grand mal-like generalized con-vulsion, myoclonus and later cerebellar symptoms and died rapidly within 3 or 4 years after initiation of seizure. The patient had first convulsive seizure at 20 years old. Even though he had been medi-cated by DPH 150 mg and PB 130 mg, photo-sensitivity on EEG, myoclonus, ataxic gait and mental deterioration appeared. He died with bronchopneumonia at 26 years old. Clinical and electroencephalographic courses were reported. Neither Lafora body nor lipid were revealed on histological findings. Nerve cells of dentate nucleus and olivary nucleus did not show any significant change. The most striking findings were loss of Purkinje's cells with degenerative features of those cells which remain, and loss or degenerative features of nerve cells and gliosis at cerebral cortex. The mechanism of myoclonus was discussed in detail from the literature. In this case the mechanism of the myoclonus was concluded that discharges probably from reticular formation were not properly modulated timely and spatially at the level of the thalamus by nerve cells of dentate nucleus which lost proper feed back system by Purkinje's cells of cerebellum, involved the neocortex and induced polyspikes on EEG and myoclonus.