Summary
A three year-eight month old Japanese girl with Niemann-Pick disease type B was reported. She was short in stature. There was a hepatosplenomegaly and an abnormality on the chest X-ray. Bone marrow aspiration smear showed typical Niemann-Pick cells.
Sphingomyelinase activities of the leucocytes and liver were assayed. The enzyme activities of both leucocytes and liver were profoundly low and the parents had leucocyte enzyme activities between the patient's and controls'.
Electronmicroscopy of the biopsied liver and lymphnodes from the patient revealed numerous cytoplasmic inclusion bodies.
Three cases of the chronic type of the disease with sphingomyelinase deficiency reported in Japan were reviewed on clinical features and laboratory findings and the phenotypic variabilities among these patients were discussed.
Our patient was the first typical Niemann-Pick disease type B patient in Japan.
Similar content being viewed by others
Article PDF
References
Callahan, J.W., Kahlil, M., and Gerrie, J. 1974. Isoenzyme of sphingomyelinase and the genetic defect in Niemann-Pick disease, Type C.Biochem. Biophys. Res. Commun. 58: 384–390.
Crocker, A.C. 1961. The cerebral defect in Tay-Sachs disease and Niemann-Pick disease.J. Neurochem. 7: 69–80.
Fredrickson, D.S., and Sloan, H.R. 1972. Sphingomyelin lipidosis. In: The Metabolic Basis of Inherited Disease. 3rd Ed. McGraw-Hill Book Co., New York. pp. 783–807.
Hammersen, G., Oppermann, H.C., Harms, E., Blassman, K., and Harzer, K. 1979. Oculo-neural involvement in an enzymatically proven case of Niemann-Pick disease Type B.Eur. J. Pediatr. 132: 77–84.
Koranyi, G., and Rajik, A. 1976. Sphingomyelin Lipidose.Mschr. Kinderheilk. 124: 712–716.
Lowry, O.H., Rosebrough, N.J., Farr, A.L. and Randall, R.J. 1951. Protein measurement with the folin phenol reagent.J. Biol. Chem. 193: 265–275.
Niemann, A. 1914. Ein unbekanntes Krankheitsbilt.Jahrb. Kinderheilk. 79: 1–10.
Pick, L. 1927. Über die lipoidzellige Splenohepatomegalie Typus Niemann-Pick als Stoffwechselerkrankung.Med. Klin. 23: 1483–1488.
Pick, L., and Bielschowsky, M. 1927. Über lipoidzellige Splenomegalie (Typus Niemann-Pick) und amaurotishe Idiotie.Klin. Wschr. 6: 1631–1632.
Schneider, P.B., and Kennedy, E.P. 1967. Sphingomyelinase in normal human spleens and in spleens from subjects with Niemann-Pick disease.J. Lipid Res. 8: 202–209.
Sloan, H.R., Uhlendorf, B.W., Kanfer, J.N., Brady, R.O., and Fredrickson, D.S. 1969. Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease.Biochem. Biophys. Res. Commun. 34: 582–588.
Sogawa, H., Horino, K., Nakamura, T., Kudoh, T., Yamanouchi, T., Minami, R., Nakao, T., Watanabe A., and Matsuura, Y. 1978. Chronic Niemann-Pick disease with sphingomyelinase deficiency in two brother with mental retardation.Eur. J. Pediatr. 128: 235–240.
Sogawa, H., Watanabe, A., Yamanouchi, T., Nakamura, T., Kudoh, T., Oyanagi, K., Orii, T., and Horino, K. 1976. The brother of Niemann-Pick disease type B.Acta Pediat. Jpn. (in Japanese)80: 19–26.
Stoffel, W., Lekim, D., and Tschung, T.S. 1971. A simple chemical method for labelling phosphatidylcholine and sphingomyelin in the choline moiety.Hoppe-Seyler's Z. Physiol. Chem. 325: 1058–1064.
Sudo, M., Tanioka, K., and Momoi, T. 1978. Stability of α-glucosidase.Ann. Pediatr. Jpn. 24: 86–90.
Uetani, Y., Kimura, A., Miwa, T., Kihara, A., Umesawa, Y., Matsunaga, T., and Yamamoto, M. 1978. A case of Niemann-Pick disease.Acta. Pediatr. Jpn. (in Japanese)82: 1277–1283.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Konishi, Y., Konishi, K., Tomisawa, T. et al. A report of a patient with Niemann-Pick disease type B and a review of the patients in Japan. Jap J Human Genet 26, 207–215 (1981). https://doi.org/10.1007/BF01896132
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF01896132
Keywords
This article is cited by
-
A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate
Journal of Inherited Metabolic Disease (1994)