Hepatic peroxisomes are deficient in infantile refsum disease: a cytochemical study of 4 cases.
We examined liver biopsies from 4 patients with the infantile form of Refsum disease. No peroxisomes were visualized by light microscopy after cytochemical staining for catalase, a marker enzyme for this organelle. Absence of peroxisomes was confirmed by electron microscopy in 3 patients; in the 4th patient we observed organelles of peculiar size and structure and with minimal catalase activity. Light microscopy also showed birefringent macrophages containing P.A.S.-positive material; they were abundant in the 3 older children, and rare in the youngest (8 months). Peroxisomes and birefringent macrophages were absent in 2 patients with the cerebrohepatorenal syndrome of Zellweger. The simultaneous presence of these unique light microscopical characteristics may be of diagnostic value.
D001718:Birefringence; D002374:Catalase / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D008099:Liver / Q000201:enzymology / Q000648:ultrastructure*; D008264:Macrophages / Q000648:ultrastructure; D008297:Male; D008830:Microbodies / Q000201:enzymology / Q000648:ultrastructure*; D008854:Microscopy, Electron; D012035:Refsum Disease / Q000201:enzymology / Q000209:etiology / Q000473:pathology*
D002374:Catalase