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Radiographic findings in type 3b Gaucher disease

S C Hill1, B M Damaska, M Tsokos

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

Pediatric Radiology
|December 1, 1996
PubMed
Summary

Radiographic findings in type 3b Gaucher disease reveal severe systemic manifestations, including pulmonary infiltrates and bone issues. These imaging features are more pronounced than in type 1 Gaucher disease.

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Area of Science:

  • Radiology
  • Genetics
  • Neurology

Background:

  • Gaucher disease is a lysosomal storage disorder with varying clinical severity.
  • Type 3b Gaucher disease is a chronic neuronopathic form with significant systemic involvement.

Purpose of the Study:

  • To detail the radiographic findings in patients with type 3b Gaucher disease.
  • To compare the radiographic spectrum with type 1 Gaucher disease.

Main Methods:

  • Evaluation of 17 consecutive patients between 1980 and 1985.
  • Utilized radiography (chest, long bones, spine), CT (head, chest), abdominal sonography, and MRI (head, abdomen, spine).

Main Results:

  • Type 3b Gaucher disease presents with severe systemic manifestations, leading to mortality in nine patients due to organ failure.

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  • Radiographic findings overlap with type 1 Gaucher disease but are more severe.
  • Increased frequency of pulmonary infiltrates, thoracic lymphadenopathy, vertebral compression fractures, and osteonecrosis observed in type 3b.

    • Conclusions:

    • Radiographic assessment is crucial for understanding the severity of type 3b Gaucher disease.
    • Type 3b Gaucher disease exhibits a more aggressive pattern of systemic and skeletal involvement compared to type 1.
    • Imaging findings highlight the widespread impact of this genetic disorder.