Kanoun N, Trabelsi M, Oueslati A, Damergi R, Ben Dridi M F, Boudhina R, Bennaceur B
Ann Pediatr (Paris). 1989 May;36(5):335-8.
We report two cases of Niemann-Pick disease in a sister and brother. Early jaundice was the first manifestation in both cases and was followed by cachexia and a rapidly fatal outcome. Neurologic involvement was obvious in both patients. Biologic phenotype was consistent with a diagnosis of type C sphingomyelinase, although clinical expression was different. These two cases should be classified within the infantile and early forms of Niemann-Pick disease type C. Antenatal diagnosis was performed during a third pregnancy. Enzyme activity assays on a specimen of trophoblast taken at the tenth week of gestation showed the fetus was not affected. This diagnosis was confirmed by a normal clinical evaluation at two months of life, and normal sphingomyelinase activity of cultured skin fibroblasts.
我们报告了一对姐弟患尼曼-匹克病的两个病例。早期黄疸是两例的首发表现，随后出现恶病质并迅速死亡。两名患者均有明显的神经系统受累。生物学表型与C型鞘磷脂酶诊断一致，尽管临床表现有所不同。这两个病例应归类为婴儿期和早期形式的尼曼-匹克病C型。在第三次怀孕时进行了产前诊断。对妊娠第10周采集的滋养层细胞标本进行酶活性测定，结果显示胎儿未受影响。出生两个月时的正常临床评估以及培养的皮肤成纤维细胞鞘磷脂酶活性正常证实了这一诊断。
