Elleder M, Smíd F, Kohn R
Virchows Arch A Pathol Anat Histol. 1975;365(3):239-55. doi: 10.1007/BF00434042.
A case of a 27 month old girl suffering from a rare form of lipidosis is described. Clinical symtoms consisted of a moderate hepatosplenomegaly and a progressive psychomotor retardation. Bioptical examination of the liver, appendix and skin revealed a pronounced lipid storage in histiocytes, hepatocytes, vascular endothelium and in peripheral nervous system. Histochemically, a generalized storage of phosphoglycerides and cholesterol was found. It was accompanied with a moderate amount of sphingomyelin and a variable amount of glycolipids (predominantly glycosphingolipids), the latter being stored mainly in the peripheral nervous system and in the vascular endothelium. Chromatographically, an increased concentration of lysobisphosphatidic acid and cholesterol could be detected. The ultrastructure of storage cytosomes was rather pleomorphic often with concentrically lamellar appearance. Further details of the investigation are described and the relation of this case to those described by Baar and Hickmans (1956) and Wiedemann et al. (1972) is stressed. Due to a strong evidence that this group of diseases represents a new type of phospholipid storage disease the name "Phospholipidosis Type II" (Baar-Wiedemann) or "Phosphoglyceridosis" is proposed, whereas "Phospholipidosis Type I" or "Sphingomyelinosis" should be reserved for the classical Niemann-Pick complex.
本文描述了一名27个月大女童患罕见脂质沉积症的病例。临床症状包括中度肝脾肿大和进行性精神运动发育迟缓。对肝脏、阑尾和皮肤进行活检发现，组织细胞、肝细胞、血管内皮和外周神经系统中存在明显的脂质蓄积。组织化学检查发现，存在甘油磷脂和胆固醇的广泛蓄积。同时伴有适量的鞘磷脂和不同量的糖脂（主要是糖鞘脂），后者主要蓄积在外周神经系统和血管内皮中。色谱分析检测到溶血双磷脂酸和胆固醇的浓度升高。蓄积性细胞小体的超微结构形态多样，常呈同心层状外观。文中还描述了进一步的研究细节，并强调了该病例与Baar和Hickmans（1956年）以及Wiedemann等人（1972年）所描述病例的关系。鉴于有充分证据表明这组疾病代表一种新型磷脂沉积症，建议将其命名为“II型磷脂沉积症”（Baar-Wiedemann型）或“甘油磷脂沉积症”，而“I型磷脂沉积症”或“鞘磷脂沉积症”应保留用于典型的尼曼-匹克综合征。
