Gargoylismの1例—大脳皮質神経細胞内蓄積物の超微細構造に関する検索を中心として

A Case of Gargoylism:With Special Reference to the Ultrastructural Research for the Stored Material in the Cerebral Cortex Nerve Cell

I．はじめに

　Gargoylismは，知能障害，骨発育不全，肝脾腫および特異な顔貌などを特徴とする先天性の疾患であり，その本態はいまだ十分には明らかではないが，本疾患に特異的なことは患者の尿中に多量のAcid mucopolysaccharide （A．M．P．S．）が排泄されることであり，この代謝異常がGargoylismの本態ではないかと考えられている。従来，光学顕微鏡レベルでは中枢神経組織を初めとして本疾患に関するかなり詳細な報告が行なわれているが，電子顕微鏡的には研究成果に乏しく，本邦でも1〜2の記載がみられるにすぎない。われわれは，当教室で経験したGargoylismの1例について大脳を検索する機会を得たのでその結果を報告する。

The ultrastructure and the histochemistry of the stored material in the cerebral cortex nerve cells in a case of Gargoylism were investigated. In spite of the formalin fixation for about 8 long months, the morphological findings of the stored material were much the same as those of biopsy material.

1) According to morphological characteristics, the stored material was able to be classified into two types. The first type showed increased electron density with a fine stratification and the second showed vacuolation of low electron density. At the same time, in the first type, we could distinguish zebra bodies, granulo-membranous bodies and similar hobies to M. C. B.

2) The stored material was surmised to consist of ganglioside and acid mucopolysaccharide judging from ultrastructural and histochemical findings.

3) We could scarcely discuss the pathological changes of cytoplasmic organelles in nerve cells, cerebral capillaries and nerve fibers because the brain tissue of this case had been fixed by formalin for a long time.