title: Adrenal changes in Niemann-Pick disease: differences between sphingomyelinase deficiency and type C.
abstract: Structural, chemical, and histochemical analyses of adrenal tissue performed in 8 cases of Niemann-Pick disease (NPD) revealed stark differences of storage between spingomyelinase (SMase) deficiency (6 cases) and type C (2 cases). In all the full-blown cases of the SMase deficiency group, pronounced sphingomyelin (SM) storage was found in all the zones of the cortical epithelium with slightly increasing centripetal gradient. The storage resulted in the reduction or even disappearance of lipofuscinogenesis in the reticular zone, in the reduction of the physiological fat content, in the generalized foamy transformation of the epithelium, and in moderate organomegaly. The storage was expressed in both A and B types and was roughly proportional to the storage in other viscera. The stromal storage was confined to the vascular endothelium, and in particular, to the macrophages. One of the cases showed the presence of typical spirolactone bodies unmodified in fine structure by the lysosomal storage. Their most conspicuous enzymatic activity was that of non-specific esterase and NADH tetrazolium reductase. The adrenals in type C were macroscopically and histologically normal except for a variable population of stromal foam cells. Chemically, there was slight increase in all phospholipids with borderline or moderate percentual increase of SM. There was also slight increase in some of the lower neutral glycosphingolipids. Electron microscopy dislosed rudimentar storage in lower cortical layer epithelium which by its fine structure and according to results of lipid histochemistry was qualitatively different from that in SMase deficiency. The stromal storage was expressed mainly in macrophages in which there was histochemically detectable amount of SM. There was no storage detectable in medullary cells in neither group of NPD complex. The results point not only to striking quantitative differences in storage intensity between the 2 basic groups of NPD showing the cortical epithelium in type C as being remarkably resistant to the metabolic disorder, but also to difference in quality of the storage very much like that found in other tissues, too.
mesh_terms: D000302:Adrenal Cortex / Q000473:pathology; D000311:Adrenal Glands / Q000473:pathology*; D000313:Adrenal Medulla / Q000473:pathology; D005260:Female; D006801:Humans; D006867:Hydrolases / Q000378:metabolism; D008055:Lipids / Q000032:analysis; D008297:Male; D009542:Niemann-Pick Diseases / Q000201:enzymology / Q000473:pathology*; D010088:Oxidoreductases / Q000378:metabolism; D010727:Phosphoric Diester Hydrolases / Q000172:deficiency*; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency*
chemical_list: D008055:Lipids; D010088:Oxidoreductases; D006867:Hydrolases; D010727:Phosphoric Diester Hydrolases; D013108:Sphingomyelin Phosphodiesterase