Ultrastructure and peroxidase of leucocytes in five patients with juvenile form of ceroid lipofuscinoses.
Peripheral leucocytes obtained from five patients with clinical histories and funduscopic findings typical of the juvenile form of the so-called neuronal ceroid lipofuscinosis (NCLF) (synonym: Spielmeyer-Vogt disease) were assayed for peroxidase activity and examined by electron microscopy. The peroxidase levels were considerably lower in three but normal in two patients. Ultrastructurally, the lymphocytes of all five patients showed the presence of tubulo-membranous cytosomes many displaying the fingerprint images at present regarded as being typical for the NCLF. The possible implications of the discrepancy between the morphological observations and the enzymatic findings are discussed.
D000293:Adolescent; D002462:Cell Membrane / Q000201:enzymology / Q000648:ultrastructure; D002648:Child; D005260:Female; D006801:Humans; D007700:Kinetics; D007962:Leukocytes / Q000201:enzymology* / Q000648:ultrastructure; D008064:Lipidoses / Q000201:enzymology; D008214:Lymphocytes / Q000201:enzymology / Q000648:ultrastructure; D008854:Microscopy, Electron; D010544:Peroxidases / Q000097:blood* / Q000378:metabolism; D013106:Sphingolipidoses / Q000201:enzymology*
D010544:Peroxidases