Omura K, Suzuki Y, Norose N, Sato M, Maruyama K, Koeda T
Division of Inherited Metabolic Disease, National Institute of Neuroscience, Tokyo, Japan.
Brain Dev. 1989;11(1):57-61. doi: 10.1016/s0387-7604(89)80010-5.
Clinical and biochemical studies were performed on 6 cases of type C Niemann-Pick disease. Neurological symptoms started in early infancy in 3 cases, and in childhood in the other 3 cases. However, no clear discriminations were possible with regard to neurological and general somatic manifestations between these two groups. All patients showed normal or slightly low sphingomyelinase and beta-glucosidase activities in fibroblasts, and a defect of esterification of exogenous cholesterol. The extent of these abnormalities was not correlated with the clinical course or severity of this disease.
对6例C型尼曼-匹克病患者进行了临床和生化研究。3例患者的神经症状始于婴儿早期，另外3例始于儿童期。然而，这两组患者在神经和全身躯体表现方面无法进行明确区分。所有患者的成纤维细胞中鞘磷脂酶和β-葡萄糖苷酶活性正常或略低，且外源性胆固醇酯化存在缺陷。这些异常的程度与该疾病的临床病程或严重程度无关。
