Ragged-red fiberを伴うミオクローヌスてんかん（福原病）の1剖検例

AN AUTOPSY CASE OF MYOCLONUS EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (FUKUHARA DISEASE)

　抄録　1980年にFukuharaらがragged-red fiberを伴うmyoclonus epilepsy （MERRF）として，記載した2症例の第1例の剖検所見を報告した。本例では，①歯状核，赤核，淡蒼球，視床下核，橋被蓋などの変性。②クラーク核，脊髄小脳路，後索，皮質脊髄路の変性と，後根や腓腹神経など，知覚神経優位の末梢神経の変性。③黒質，青斑核，小脳皮質，下オリーブ核の変性。④広範な筋組織のmitochondrial myo-pathyなどが認められた。神経系病変の性状は変性性であり，その分布は，dentatorubropallidoluysianatrophy （DRPLA），Friedreich失調症，Joseph病など，既知の疾患のいずれとも異なっていた。MERRFは神経病理学的にも独立した一疾患単位をなすことが示唆された。

In 1980, Fukuhara et al. have reported two patients with "myoclonus epilepsy associated with ragged-red fibers" (MERRF), which is at present accepted as a distinctive clinical entity among the mitochondrial encephalomyopathies. We describe here postmortem findings of the case whose clini-cal findings were reported in detail by Fukuhara et al. (1980) as Case 1.

The neuropathological findings were summa-rized as follows : 1) degeneration of dentate nucleus, red nucleus, globus pallidus, subthalamic nucleus and pontine tegmentum, 2) degeneration of the Clarke's column, spinocerebellar tract, posterior column and corticospinal tract, as well as of the posterior spinal nerve root and sural nerve, and 3) degeneration of substantia nigra, locus ceruleus, cerebellar cortex and inferior olivary nucleus. The lesions were degenerative in nature, and their distribution was different from those of dentato-rubropallidoluysian atrophy, Joseph's disease or Friedreich's ataxia.

It was concluded that MERRF is a single dis-ease entity also from pathological point of view.