Multilamellar CytosomesをもつGerebral Lipidosisの成人型の1例

AN ADULT TYPE OF CEREBRAL LIPIDOSIS WITH MULTILAMELLAR CYTOSOMES

I．はじめに

　従来，発病年齢で分類されていた家族性黒内障性白痴における最近の脂質化学研究は大きく進歩し，蓄積物質の化学的性質が明らかにされ，その原因としての欠損酵素も解明されつつある。例えば，Tay-Sachs病におけるGM₂-gangliosideの蓄積とhexosaminidase Aの欠損，Nieman-Pick病におけるsphingomyelinaseの欠損，GM₁-gangliosidosisにおけるβ-galactosidaseの欠損等である。しかしこれらの対照的に，後期幼児期以後発病のcerebral lipidosisは，一部を除き主に電顕的に検索されている段階である。late infantile typeにみられるmultilamellar cytosomes，pleomorphic cytoplasmicinclusions，juvenile typeにみられるcurvilinear bo—dies，finger-print like pattern, adult typeにみられるlipofuscin granule等が報告されている。本例のmye—nteric plexusの電顕的検索では，蓄積脂質はlipofuscinlike bodyであるが，脳では部位によりmultilamellarcytosomeであり，またfinger print like patternを示した。multilamellar cytosomeがadult typeにみられた例は未だ発表されていない。また本例では封入体と細胞小器官の関係が明らかに観察された。

The patient had been apparently healthy until the age of 14, when he developed a stammer. Two years later, he was attacked by a grand mal seizure and thereafter myoclonus occurred. Disturbance of gait, motor abilities, speech, vision and mental functions progressed, year after year.

The rectal biopsy which was performed at the age of 25, revealed that the neurones in the my-enteric plexus were filled with lipofuscin-like bodies. He died suddenly at the age of 27.

The brain obtained at autopsy was studied histo-logically, electron microscopically and biochemically. In histological observations, the prominent feature was the swelling of nerve cells extending, more or less, all over the central nervous system.

The cerebellum was atrophied. The cytoplasm of swollen nerve cell was filled with small granules, which contained storage substance showing the characterstics of phospholipid as well as ofPAS-positive glycolipid histochemically.

The electron microscopic observation revealed that the cytoplasmic inclusions consisted of multi-lamellar cytosomes, fingerprint-like patterns and granular bodies. The multilamellar cytosomes coexisted with lipid droplets granular components and swollen rough endoplasmic reticulum in a common limitting membrane. These findings sug-gested that they might be the residual bodies (Novicoff 1963) of autophagosomes.

Biochemical analysis of glycolipid in the cerebral cortex revealed that there was no abnormal storage of ganglioside nor was other glicolipids.