Radiographic findings in type 3b Gaucher disease

• Published in: Pediatric radiology Vol. 26; no. 12; p. 852
• Main Authors: Hill, S C, Damaska, B M, Tsokos, M, Kreps, C, Brady, R O, Barton, N W
• Format: Journal Article
• Language: English
• Published: Germany 01.12.1996
• Subjects: Adolescent; Child; Child, Preschool; Female; Gaucher Disease - diagnosis; Gaucher Disease - diagnostic imaging; Humans; Magnetic Resonance Imaging; Male; Tomography, X-Ray Computed
• ISSN: 0301-0449
• DOI: 10.1007/BF03178036

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.