[Sphingomyelin lipoidosis (author's transl)].

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.