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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
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.
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.
- 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.