Abstract
Clinical, biochemical, and electron microscopic studies are pesented in two brothers with Niemann-Pick disease. The clinical features include hepatosplenomegaly and mental retardation without any other neurological signs. Roentgenograms of the chest showed bilateral diffuse reticular infiltration. The amounts of sphingomyelin and cholesterol in liver were increased, and sphingomyelinase activities in both liver and skin fibroblasts were markedly reduced in Case 1. Numerous foam cells and myelin figures were observed in the liver, kidneys, bone marrow, and lymph nodes on electron microscopical examination. These cases were regarded as a variant of Niemann-Pick disease from our investigations as they have mental retardation as an exceptional symptom when they are diagnosed as type B.
Similar content being viewed by others
References
Bartlett, G. R.: Phosphorus assay in column chromatography. J. Biol. Chem. 234, 466–468 (1959)
Brady, R. O., Kanfer, J. N., Mock, M. B., et al.: The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick disease. Proc. Nat. Acad. Sci. USA 55, 366–369 (1966)
Callahan, J. W., Khalil, M.: Sphingomyelinases and the genetic defects in Niemann-Pick disease. In: Current trends in sphingolipidoses and allied disorders (eds. B. W. Volk, L. Schneck), Vol. 68, pp. 367–378. New York and London: Plenum Press 1975
Crocker, A. C., Farber, S.: Niemann-Pick disease: A review of 18 patients. Medicine 37, 1–95 (1958)
Folch, J., Lees, M., Sloane Stanley, G. H.: A simple method for the isolation and purification of total lipids from animal tissues. J. Biol. Chem. 226, 497–509 (1957)
Fredrickson, D. S., Sloan, H. D.: Sphingomyelin lipidosis: Niemann-Pick disease. In: The metabolic basis of inherited disease (eds. J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson), pp. 783–807. New York: McGraw-Hill Book Co. Inc. 1972
Miller, W. L., Reimann, B. E. F.: Childhood variant of Niemann-Pick disease. Am. J. Clin. Path. 58, 450–457 (1972)
Skipski, V. P., Peterson, R. F., Barclay, M.: Quantitative analysis of phospholipids by thinlayer chromatography. Biochem. J. 90, 374–378 (1964)
Sloan, H. R., Uhlendorf, B. W., Kanfer, J. N., Brady, R. O., Fredrickson, D. S.: Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease. Biochem. Biophys. Res. Commun. 34, 582–588 (1969)
Sloan, H. R.: Sphingomyelinase from human liver (Sphingomyelin cholinephosphohydrolase). In: Methods in Enzymology (eds. S. P. Colowick, N. O. Kaplan), pp. 874–879. New York: Academic Press 1972
Stoffel, W., Lekin, D., Tschung, T. S.: A simple chemical method for labelling phosphatidylcholine and sphingomyelin in the choline moiety. Hoppe Seyler's Z. Physiol. Chem. 352, 1058–1064 (1971)
Zak, B.: Simple rapid microtechnic for serum total cholesterol. Am. J. Clin. Path. 27, 583–588 (1957)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Sogawa, H., Horino, K., Nakamura, F. et al. Chronic Niemann-Pick disease with sphingomyelinase deficiency in two brothers with mental retardation. Eur J Pediatr 128, 235–240 (1978). https://doi.org/10.1007/BF00445608
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00445608