肝脳変性疾患特殊型の1例

A CASE OF INOSE'S SPECIAL TYPE OF HEPATO-CEREBRAL DEGENERATION

　53歳の男子で，臨床的には周期性の意識障害発作を中核とし，器質性痴呆を認め，Kayser-Fleischer角膜輪を欠き，神経症状としては震顫，協調運動障害，構音障害，眼球運動障害，更に発作時に間代性痙攣及び攣縮を認めた。発病後約1年にして死亡。

　生化学的所見では，一般肝硬変時にみられる全面的な肝機能障害の他，尿中銅排泄増加，血清鉄，尿中17-OHCSの増加，高アミノ酸血を伴なわないアミノ酸尿症を示した。

　剖検では，中枢神経系に於いては前中心回，後頭葉，淡蒼球，小脳歯状核，Edinger-Westphal核の海綿状態，レンズ核の神経細胞の変性脱落，全脳領域にAlzheimerII型膠細胞の出現を認め，且つカルミン陽性封入体を認めた。肝は粗大結節性肝硬変を示したが，銅沈着は認められなかつた。

A case is reported of 53years old male patient who had been diagnosed as Inose's special type of hepato-cerebral degeneration.

The followings account for the findings recorded of the case:

Clinical symptoms:

The patient showed progressive mental deterioration accompaning periodical impair-ment of consciousness, tremor, incoordination of movement, and impairments of articulation as much as eyeball movement. The corneal ring of Kayser-Fleischer was absent.

Biochemical findings:

There were an increase of urinary output of copper, serum iron and urinary 17 OHCS while amino-aciduria was also noted under the absence of high amino-acidemia.

Histological findings:

Spongy state was observed in precentral gyrus, occipital lobe, pallidum, dentate nucleus and Edinger-Westphal's nucleus. Also noted were degenerative changes including disapperance of nerve cells in lentiform nucleus, presenting some number of glia cells of Alzheimer II type which demonstrated the inclusion body intranuclearly as stainable with Best's Carmin. On the other hand, the liver showed gross nodular cirrhosis but no deposition of copper.