Salen G, Zaki F G, Sabesin S, Boehme D, Shefer S, Mosbach E H
Gastroenterology. 1978 Jan;74(1):82-9.
Liver specimens from two patients with cerebrotendinous xanthomatosis revealed intracellular inclusions that appeared either as amorphous pigment or in a crystalloid form. The pigment was usually found in assoication with the smooth endoplasmic reticulum and occasionally free floating in the cytosol. The chemical nature of these inclusions has not yet been determined. However, the accumulation of such material may indicate the presence of nonmetabolizable bile alcohols resulting from a defect in bile acid synthesis.
两名患有脑腱黄瘤病的患者的肝脏标本显示出细胞内包涵体，这些包涵体呈现为无定形色素或晶体形式。色素通常与滑面内质网相关联，偶尔也会游离于细胞质中。这些包涵体的化学性质尚未确定。然而，此类物质的积累可能表明存在由于胆汁酸合成缺陷导致的不可代谢胆汁醇。
