家族性黒内障性白痴について

ON THE AMAUROTIC FAMILY IDIOCY

　以上述べて来た事を要約すれば

　1）患者は遠い血縁のある両親の下に生れた女児で，3年6ヵ月に痙攣発作を以て発病，1年8ヵ月の経過で5年2ヵ月で死亡，尚，同胞中には同一疾患に罹病していたと疑われるものは見出し得ない。

　2）臨床的に，智能程度は白痴であり，視力障碍は存したらしいが全くの旨目という事なく，眼底所見はpostneuritische Sehnervenatrophieがあり，黄斑部には特有の所見を欠く。震顫，小脳性失調が著明で一時Friedreich氏病が疑われ，気脳写でも著明な小脳萎縮を認めた。末期にはschlaffe Lähmungよりspastische Lähmungの状態となり病的反射の出現も見た。

　3）解剖所見では肉眼的に小脳萎縮，硬化と左側後頭葉にAffenspalteを認め，顕微鏡所見では，神経細胞は類脂質の沈着によつて所謂，気球状の膨隆を示し，これは時にその樹枝状突起にも及んでいる。小脳の変化は特徴的で，小脳萎縮の像があるが遺伝性小脳失調症と対照的な所見の相違を見た。Glioseは場所によつてはかなり高度であつた。以上の諸変化の程度はTay-Sachs型とSpielmeyer-Vogt型の中間に位する。

　4）その他の諸臓器では，貧血と肝の肥大，脂肪変性があるが，脾は寧ろ萎縮しNiemann-Pick氏病とは関連が少いと考えられる。

A female patient. Epileptic convulsion was first seen at the age of 3 years and 6 months. Later, petit mal seizure followed. Gradually dementia and cerebellar ataxia became marked and she died at the age of 5 years and 2 months in the state of spastic paralysis. Cere-beller atrophy was observed in pneumoence-phalogram. Postneuritic optic nerve atrophy was found in her eye-ground. But no charac-teristic macular change could be found. Vi-sual disorder was marked but did not reach to blindness.

Pathological changes: Weight of her brain was 900g. Simian fissure was observed in the left side. Cerebellum was atrophic and scler-otic. Microscopically the nerve cells were swelled like balloon and they were full of lipid. This marked atrophy and sclerosis in the cerebellum contrastly different from that of another cerebellar hereditar ataxia. Peri-pheral fatty degeneration was found in liver. Spleen was atrophic and no fatty degenera-tion was found. So we cannot found any rela-tion to Niemann-Pick desease.

This case belongs to the late infantile type.