Kunishita T, Taketomi T
Jpn J Exp Med. 1979 Apr;49(2):151-6.
A patient with myoclonus epilepsy as a main clinical symptom was histopathologically diagnosed as a generalized sphingolipidosis. It was found that both sphingomyelin and globoside I fairly increased in kidney, heart, lung and liver. While, only sphingomyelin was found to increase in cerebral gray and white matters and cerebellum, but other lipids were within the normal range. Sphingomyelin accounted for 22% of the total phospholipids especially in cerebellum. No cholesterol ester and ganglioside GM2 or asialo GM2 were in particular found in the brain. Fatty acid compositions of phospholipids, glycosphingolipids and gangliosides were found to be normal. Judging from the sphingomyelin storage not only in visceral organs but also in brain tissues, it was proposed that this disease might be a variant in Niemann-Pick disease Type C, although an enzymatic assay of sphingomyelinase still remains.
一名以肌阵挛性癫痫为主要临床症状的患者经组织病理学诊断为全身性鞘脂沉积症。研究发现，鞘磷脂和球苷脂I在肾脏、心脏、肺和肝脏中均显著增加。而在脑灰质、白质和小脑中仅发现鞘磷脂增加，其他脂质则在正常范围内。鞘磷脂占总磷脂的22%，尤其在小脑中。在脑中未特别发现胆固醇酯和神经节苷脂GM2或脱唾液酸GM2。磷脂、糖鞘脂和神经节苷脂的脂肪酸组成正常。从鞘磷脂不仅在内脏器官而且在脑组织中蓄积来看，尽管仍有待进行鞘磷脂酶的酶活性测定，但推测该疾病可能是尼曼-匹克病C型的一种变异型。
