家族性黒内障性白痴（晩発幼児型）の臨床及び組織病理

Clinical and histopathological findings of amaurotic family idiocy (late infantile form)

1．緒言

　家族性黒内障性白痴は1881年W．Tay及び1887年B．Sachsらの報告に端を発するが，その特有な脳病理組織所見は1905年Schaffer^1），又やや遅れてSpielmeyer^2）の記載によつて知られるようになり，これらの報告によりSchaffer-Spielmeyerscher Zellprozessと命名された。その後病理組織学上の基本的差違がないにも拘らず，発病年令，経過更には遺伝的な面から本疾患の臨床型がBielschowsky, Kufs^3），Normanwood^4）らによつて分けられるに及んで多数の症例が相次いで報告され，我国でもその報告は必ずしも少なしとしない，然し本邦に於けるそれらの報告の多くは臨症所見の記述に留まるものであり剖検例は少ないようである。しかも報告例中幼児型が最も多く約5割を占め以下若年型，晩発幼児型，成人型の順である。幼児型を除いた他の諸型は特有な眼底所見を欠き且遅発する程臨床症状が多岐に亘るために確実な診断は脳病理組織所見に待つ他はない。この為に生前に脳穿刺を施行して診断する方法さえ提唱された^5）。一方，本疾患過程の本態に就いては，所謂一連のLipoidoseを示す疾患との深い関連性が挙げられているが，総じて現在に至るまで脂質代謝異常と云う以外には明らかにされていない。

　A male case of amaurotic family idiocy wasreported.

　Epileptic seizure was first seen at the age of 5years, gradually revealed mental deterioration andhe died at the age of 8 years, and a month. Familial occurance was noted in this case.

　1) According to the clinical features, the juvenileform was postulated, but slight cerebellarataxia and pyramidal disturbance were seen. He was almost blind and had clouding ofvitrous body. Ophthalmologically optic atrophyand the feature similar to degeneratio pig-mentosa retinae sine pigmento were found.

　2) Pathological findings: Atrophy and sclerosisof the brain were observed, prominent in cerebellum. There found Schaffer-Spielemeyer'sfigure in all regions of the brain, especiallyremarkable in frontal-, parietal-, temporal-cortex, diencephalon and cerebellar cortex. Schaffer-Spielmeyer's figure was partially combinedwith ischemic change and incomplete necroticfoci. In cerebellum, loss of granular layer wascharacteristic, and medullated fiber was fairymaintained in granullar layer, composed withalteration and disappearance of nerve fiber.

　3) Histochemically stored material was supposedto be lipids, and biochemically ganglioside (Strandin-fraction) increased 5~6 times of thecontent of the normal brain. Stored materialfound in swollen glial cell showed the samereaction.

　4) Correlation to Niemann-Pick's disease wasdenied from the clinical and histological findings.

　It was thought from the findings describedabove that this case should be belonged to thelate infantile form.