[两名同胞患C型尼曼-匹克病。其诊断的生化基础]
[Type C Niemann-Pick disease in 2 siblings. Biochemical bases of its diagnosis].
作者信息
Pámpols T, Pineda M, Ferreter M, Fernández E
出版信息
An Esp Pediatr. 1986 Apr;24(4):250-6.
Two brothers, a seven-year-old male and a nine-year-old female are reported. Clinical features include scholar troubles and clumsiness, hepatosplenomegaly, vertical supranuclear ophthalmoplegia and ataxic gait. Moreover, the girl showed intention tremor. Foamy histiocytes were seen in bone marrow and some Niemann-Pick type Kupffer cells were present in liver. Girl's conjunctival biopsy showed lamellar inclusions. Biochemical studies were performed in girl's skin and liver biopsies. Sphingomyelinase activity assayed with 14C sphingomieline in cultured skin fibroblasts was 26% at the mean control value. Liver lipid composition did not show an appreciable increase of sphingomyelin or cholesterol, but bis (monoacylglyceryl) phosphate was clearly elevated. These data are compatible with Niemann-Pick disease type C.
据报道有两名兄妹，分别为7岁男性和9岁女性。临床特征包括学习困难和动作笨拙、肝脾肿大、垂直性核上性眼肌麻痹和共济失调步态。此外，该女孩还表现出意向性震颤。骨髓中可见泡沫状组织细胞，肝脏中存在一些尼曼-匹克C型库普弗细胞。女孩的结膜活检显示有板层状包涵体。对女孩的皮肤和肝脏活检进行了生化研究。在培养的皮肤成纤维细胞中用14C鞘磷脂测定的鞘磷脂酶活性为平均对照值的26%。肝脏脂质组成未显示鞘磷脂或胆固醇有明显增加，但双（单酰甘油）磷酸明显升高。这些数据符合尼曼-匹克C型病。
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