[Phosphoglyceridosis].

Abstract

On the basis of a bioptic examination of the appendix, skin and a liver specimen, the diagnosis of phospholipidosis was made in a girl aged 27 months. In contrast to the Niemann-Pick's complex of sphingomyelinoses, phosphoglycerides were stored in larger amounts than spingomyelin. The disease should be undoubtedly included under one heading with the so-called "kephalinosis" [11] and with the cases described by Wiedemann et al. [10]. The terms "Type II phospholipidosis [Baar-Wiedemann's disease]" or, briefly, phosphoglyceridosis, appear to be most adequeate for designating the diseases in question. The disorder can be diagnosed on the basis of iron hematoxylin staining, visualizing all phospholipids. In Niemann-Pick's sfingomyelinosis, alkaline hydrolysis does not alter the colour, whereas in the phosphoglyceridosis under discussion the colour is substantially reduced or even desappears after alkaline hydrolysis.