Korányi G, Rajk A
Monatsschr Kinderheilkd (1902). 1976 Oct;124(10):712-6.
The case of a girl is described who was 3 1/4 years of age and was admitted of the hospital because of hepato-splenomegaly. In addition to this, there were peculiar alterations in the lungs, an increase of lipoids in the blood, a characteristic alteration of the retina, and bone marrow and liver cells storing lipoid. The diagnosis of sphingomyelin lipoidosis (Niemann-Pick) was confirmed by electronmicroscopic and biochemical investigation of a percutaneous liver biopsy specimen.
本文描述了一名3又1/4岁女孩的病例，她因肝脾肿大入院。除此之外，肺部有特殊改变，血液中类脂增加，视网膜有特征性改变，骨髓和肝细胞储存类脂。通过经皮肝活检标本的电子显微镜和生化检查，确诊为鞘磷脂类脂沉积症（尼曼-皮克病）。
