Morphology and distribution of cytoplasmic inclusions in adrenoleukodystrophy.
We report some additional observations on the pathognomonic cytoplasmic inclusions in a typical case of adrenoleukodystrophy (ALD). Study of the linear inclusions by means of tilt-stage electron microscopy indicated that they represent trilaminar sheet-like structures distinct from materials seen in various other storage disorders. This study emphasizes that the inclusions in the adrenal and testicular parenchymal cells morphologically differ from those in the brain macrophages. In the latter they occur as membrane-bound discrete structures while in the parenchymal cells they are always seen lying free in the cytoplasm and associated with cleft-like spaces. This morphologic variation of the inclusions is noteworthy and probably reflects a biochemical difference in the storage materials in these two most severely affected organs. In addition, this study demonstrates the presence of linear inclusions within macrophages in otherwise normal-appearing liver, spleen, thymus and also in the renal tubular cells. These findings suggest that the abnormal materials containing very long chain fatty acids enter the blood stream and become sequestered in the reticuloendothelial system and possibly are also excreted in the urine. Detection of these abnormal fatty acids in blood and urine may simplify diagnosis of ALD.
D000293:Adolescent; D000311:Adrenal Glands / Q000648:ultrastructure*; D000309:Adrenal Insufficiency / Q000473:pathology*; D001921:Brain / Q000648:ultrastructure*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000473:pathology*; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure*; D007728:Kupffer Cells / Q000648:ultrastructure; D008264:Macrophages / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D013737:Testis / Q000648:ultrastructure