Skip to main content
SpringerLink
Log in

Radiographic findings in type 3 b Gaucher disease

  • Published:
Pediatric Radiology Aims and scope Submit manuscript

Abstract

The purpose of this paper is to describe the radiographic findings in type 3 b Gaucher disease, a chronic neuronopathic form of the illness with severe systemic manifestations. Between 1980 and 1985 17 consecutive patients were evaluated with radiography of the chest, long bones and spine, CT of the head and chest, abdominal sonography, and MRI of the head, abdomen and spine. Clinical manifestations were severe, and led to death from hepatic, pulmonary or cardiac failure in nine patients. Type 3 b Gaucher disease shares the same spectrum of radiographic findings observed in type 1 disease, but the systemic manifestations are more severe. Pulmonary infiltrates, thoracic lymph node enlargement, vertebral compression fractures and osteonecrosis of the long bones occur much more frequently in patients with type 3 b disease.

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

Access this article

Log in via an institution

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

  1. Brady RO, Kanfer JN, Shapiro D (1965) Metabolism of glucocerebrosides: evidence of an enzymatic deficiency in Gaucher disease. Biochem Biophys Res Commun 18:221–225

    Article  CAS  PubMed  Google Scholar 

  2. Barranger JA, Ginns EI (1989) Glucosylceramide lipidoses: Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6 th edn. McGraw-Hill, New York, pp 1677–1698

    Google Scholar 

  3. Erickson A (1986) Gaucher disease-Norrbottnian type (III): neuropediatric and neurobiological aspects of clinical patterns and treatment. Acta Paediatr Scand [Suppl] 362:1–42

    Article  Google Scholar 

  4. Winkleman MD, Banker BQ, Victor M, Moser HW (1983) Non-infantile neuronopathic Gaucher’s disease: a clinico-pathologic study. Neurology 33: 994–1008

    Google Scholar 

  5. Patterson MC, Horowitz M, Abel RB, et al (1993) Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher disease. Neurology 43:1993–1997

    CAS  PubMed  Google Scholar 

  6. Barton NW, Brady RO, Dambrosia JM, et al (1991) Replacement therapy for inherited enzyme deficiency: macro-phage-targeted glucocerebrosidase for Gaucher disease. N Engl J Med 324: 1464–1470

    Article  CAS  PubMed  Google Scholar 

  7. Rosenthal DI, Doppelt SH, Mankin HJ, et al (1995) Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics 96: 629–637

    CAS  PubMed  Google Scholar 

  8. Hill SC, Damaska BM, Ling A, et al (1992) Gaucher disease: abdominal imaging findings in 46 patients. Radiology 184: 561–566

    CAS  PubMed  Google Scholar 

  9. Kita K, Kita M, Sato M, Ooshima A, Yamada R (1996) MR imaging of liver cirrhosis. Acta Radiologica 37:198–203

    Article  CAS  PubMed  Google Scholar 

  10. Gaucher PCE (1882) De l’epithelioma primitif de la rate. Thesis, University of Paris

  11. Brill NE (1901) Primary splenomegaly with a report of three cases occurring in one family. Am J Med Sci 21:377–392

    Google Scholar 

  12. Brill NE (1904) A case of “splenomegalie primitive” with involvement of the haemopoietic organs. Proc NY Pathol Soc 4:143–149

    Google Scholar 

  13. Knudson AG, Kaplan WD (1962) Genetics of the sphingolipidoses. In: Aronson SM, Volk BW (eds) Cerebral sphingolipidoses. Academic Press, New York, pp 395–411

    Google Scholar 

  14. Brady RO, Barton NW, Grabowski GE (1993) The role of neurogenetics in Gaucher’s disease. Arch Neurol 50: 1212–1224

    CAS  PubMed  Google Scholar 

  15. Beutler E (1993) Gaucher disease as a paradigm of current issues regarding single gene mutations of humans. Proc Natl Acad Sci USA 90: 5384–5390

    Article  CAS  PubMed  Google Scholar 

  16. Stowens DW, Teitelbaum SL, Kahn AJ, Barranger JA (1985) Skeletal complications of Gaucher disease. Medicine 64; 310–322

    Article  CAS  PubMed  Google Scholar 

  17. Hill SC, Reinig JW, Barranger JA, et al (1986) Gaucher disease; sonographic appearance of the spleen. Radiology 160: 631–634

    CAS  PubMed  Google Scholar 

  18. Glass RBJ, Poznanski AK, Young S, Urban MA (1987) Gaucher disease of the liver: CT appearance. Pediatr Radiol 17: 417–418

    Article  CAS  PubMed  Google Scholar 

  19. Rosenthal DI, Barton NW, McKusick KA, et al (1992) Quantitative imaging of Gaucher disease. Radiology 185: 841–845

    CAS  PubMed  Google Scholar 

  20. Wolson AH (1975) Pulmonary findings in Gaucher’s disease. Am J Roentgenol Radium Ther Nucl Med 123:712–715

    CAS  PubMed  Google Scholar 

  21. Hainaux B, Christophe C, Hanquinet S, Perlmutter N (1992) Gaucher disease: plain radiography, US, CT and MR diagnosis of lung, bone and liver lesions. Pediatr Radiol 22: 78–79

    Article  CAS  PubMed  Google Scholar 

  22. Tunaci A, Berkman YM, Gorkmen E (1995) Pulmonary Gaucher’s disease: high resolution computed tomographic features. Pediatr Radiol 25: 237–238

    Article  CAS  PubMed  Google Scholar 

  23. Lachman R, Crocker A, Schulman J, Strand R (1973) Radiological findings in Niemann-Pick disease. Radiology 108: 659–664

    CAS  PubMed  Google Scholar 

  24. Melhem RE, Saber TJ (1980) Erosion of the medial cortex of the proximal humerus. Radiology 137: 77–79

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Diagnostic Radiology Department, Warren Grant Magnuson Clinical Center, National Institutes of Health, Building 10, Room 1C-660,10 Center DR MSG 1182, 20892-1182, Bethesda, MD, USA

    Suvimol Chirathivat Hill & Bonita M. Damaska

  2. The Laboratory of Pathology, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda, Maryland, USA

    Maria Tsokos

  3. The Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA

    Constance Kreps, Roscoe O. Brady & Norman W. Barton

Authors
  1. Suvimol Chirathivat Hill
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Bonita M. Damaska
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Maria Tsokos
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Constance Kreps
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Roscoe O. Brady
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Norman W. Barton
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Hill, S.C., Damaska, B.M., Tsokos, M. et al. Radiographic findings in type 3 b Gaucher disease. Pediatr Radiol 26, 852–860 (1996). https://doi.org/10.1007/BF03178036

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF03178036

Keywords

Search

Navigation