Skip to main content
Log in

Gaucher disease-norrbottnian type

I. General clinical description

  • Original Investigations
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

We report follow-up studies of 22 cases of the Norrbottnian type of Gaucher disease (“type III”). The series was divided into 2 main groups of families depending on their birth province (Norrbotten, Västerbotten). The distribution and types of organ manifestations and complications were the same in both groups, each of which was considered to be genotypically homogeneous. The severity of the clinical symptoms and signs and the course of the disease differed markedly not only between families but also between siblings. Splenectomy accelerated deterioration, particularly with regard to skeletal and central nervous system manifestations. On a clinical basis it is concluded that the Norrbottnian type of Gaucher disease, which has now been diagnosed in about 40 cases, is probably due to a unique mutation which may have happened several hundreds of years ago in northern Sweden.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Aghion, H.: La maladie de Gaucher dans l'enfance (forme cardio-rénale). Thèse pour le doctorat en medécine. Paris: Persan-Beaumont 1934

    Google Scholar 

  • Amstutz, H. C., Carey, E. J.: Skeletal manifestations and treatment of Gaucher's disease: Review of twenty cases. J. Bone Jt. Surg. 48, 670–701 (1966)

    Google Scholar 

  • Beighton, P., Sacks, S.: Gaucher's disease in Southern Africa. S. Afr. Med. J. 48, 1295–1299 (1974)

    Google Scholar 

  • Brady, R. O., Kanfer, J. N., Shapiro, D.: Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease. Biochem. Biophys. Res. Commun. 18, 221–225 (1965)

    Google Scholar 

  • Cogan, D. G., Adams, R. D.: A type of paralysis of conjugate gaze (ocular motor apraxia). AMA Arch. Ophth. 50, 434–442 (1953)

    Google Scholar 

  • Fredrickson, D. S., Sloan, H. R.: Glucosyl ceramide lipidoses: Gaucher's disease. In: The metabolic basis of inherited disease. 3d ed., J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson (eds.), pp. 730–759, New York, McGraw-Hill 1972

    Google Scholar 

  • Gaucher, P.: De l'épithélioma primitif de la rate. Thèse de Paris 1882

  • Groth, C. G., Collste, H., Dreborg, S., Håkansson, G., Lundgren, G., Svennerholm, L.: Attempt at enzyme replacement in Gaucher disease by renal transplantation. Transplant. Proc. XI, 1218–1219 (1979)

    Google Scholar 

  • Groth, C. G., Hagenfeldt, L., Dreborg, S., Löfström, B., Öckerman, P. A., Samuelsson, K., Svennerholm, L., Werner, B., Westberg, G.: Splenic transplantation in a case of Gaucher's disease. Lancet 1971I, 1260–1264

  • Gruenberg, J., Penner, J. A., Arbor, A.: Gaucher's disease: Observations on its clinical course. Mich. Med. 74 (17), 323–328 (1975)

    Google Scholar 

  • Herrlin, K. M., Hillborg, P. O.: Neurological signs in a juvenile form of Gaucher's disease. Acta Paediatr. 51, 137–154 (1962)

    Google Scholar 

  • Hillborg, P. O.: Morbus Gaucher in Norrbotten. Nord. Med. 61, 303–313 (1959)

    Google Scholar 

  • Hillborg, P. O.: Norrbottnian type of Gaucher disease. Transaction of symptoms on geomedical problems. Lecture Oslo may 1978 to be published

  • Hillborg, P. O., Estborn, B.: Acid phosphatase activity of serum, thrombocytes and erythrocytes in a juvenile form of Gaucher's disease. Acta Paediatr. 53, 558–569 (1964)

    Google Scholar 

  • Hillborg, P. O., Svennerholm, L.: Blood level of cerebrosides in Gaucher's disease. Acta Paediatr. 49, 707–710 (1960)

    Google Scholar 

  • Johnson, M. K., Zuck, F. N., Wingate, K.: The motor age test: Measurement of motor handicaps in children with neuromuscular disorders such as cerebral palsy. J. Bone Jt. Surg. 33A, 698–707 (1951)

    Google Scholar 

  • Karlberg, P., Taranger, J., Engström, I., Karlberg, J., Lundström, T.: I. Physical growth from birth to 16 years and longitudinal outcome of the study during the same age period. Acta Paediatr. Scand. [Suppl.] 258, 7–76 (1976)

    Google Scholar 

  • King, J. O.: Progressive myoclonic epilepsy due to Gaucher's disease in adult. J. Neurol. Neurosurg. Psychiatry 38, 849–854 (1975)

    Google Scholar 

  • Knudson, A. G., Jr., Kaplan, W. D.: Genetics of the sphingolipidoses. In: Cerebral sphingolipidoses, S. M. Aronson, B. W. Volk (eds.), pp. 395–411 New York: Academic Press 1962

    Google Scholar 

  • Miller, J. D., McCluer, R., Kanfer, J. N.: Gaucher's disease: Neurologic disorder in adult siblings. Ann. Intern. Med. 78, 883–887 (1973)

    Google Scholar 

  • Myers, B.: Gaucher's disease of the lungs. Brit. Med. J. 1937II, 8–10

  • Patrick, A. D.: A deficiency of glucocerebrosidase in Gaucher's disease. Biochem. J. 97, 71c-18c (1965)

    Google Scholar 

  • Peters, S. P., Coyle, P., Coffee, C. J., Glew, R. H., Kuhlenschmidt, M. S., Rosenfeld, L., Lee, Y. C.: Purification and properties of a heat-stable glucocerebrosidase activating factor from control and Gaucher spleen. J. Biol. Chem. 252, 563–573 (1977)

    Google Scholar 

  • Sanders, M. D., Lake, B. D.: Ocular movements in lipid storage disease. Reports of juvenile Gaucher disease and the ophthalmoplegic lipidosis. Birth Defects 12, 535–542 (1976)

    Google Scholar 

  • Schneider, E. L., Epstein, C. J., Kaback, M. J., Brandes, D.: severe pulmonary involvement in adult Gaucher's disease: Report of three cases and review of the literature. Am. J. Med. 63, 475–480 (1977)

    Google Scholar 

  • Strickland, B.: Skeletal manifestations of Gaucher's disease with some unusual findings. Brit. J. Radiol. 31, 246–253 (1958)

    Google Scholar 

  • Tripp, J. H., Lake, B. D., Young, E., Ngu, J., Brett, E. M.: Juvenile Gaucher's disease with horizontal gaze palsy in three siblings. J. Neurol. Neurosurg. Psychiatry 40, 470–478 (1977)

    Google Scholar 

  • Wolson, A. H.: Pulmonary findings in Gaucher's disease. Am. J. Roentgenol. Radium Ther. Nucl. Med. 123, 712–715 (1975)

    Google Scholar 

  • Yossipovitch, Z. H., Herman, G., Makin, M.: Aseptic osteomyelitis in Gaucher's disease. Israel J. Med. Sci. 1, 531–536 (1965)

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Additional information

Dedicated to Prof. Dr. H.-R. Wiedemann on the occasion of his 65th birthday

Rights and permissions

Reprints and permissions

About this article

Cite this article

Dreborg, S., Erikson, A. & Hagberg, B. Gaucher disease-norrbottnian type. Eur J Pediatr 133, 107–118 (1980). https://doi.org/10.1007/BF00441578

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00441578

Key words

Navigation