[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.
D001853:Bone Marrow / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D005654:Fundus Oculi; D006529:Hepatomegaly / Q000150:complications; D006801:Humans; D008055:Lipids / Q000097:blood; D008099:Liver / Q000473:pathology; D008854:Microscopy, Electron; D009542:Niemann-Pick Diseases / Q000175:diagnosis* / Q000473:pathology; D013163:Splenomegaly / Q000150:complications
D008055:Lipids
Sphingomyelin Lipoidose