Chronic Gaucher's disease: radiological findings in 17 South African cases.
This paper reports radiological findings in a series of 17 South African patients with chronic (adult or non-neuronopathic) Gaucher's disease. Osteoarticular signs are briefly analysed on the basis of their pathogenesis. The visceral findings included an enormous calcified spleen and three cases with pulmonary lesions. Important advances have been made recently in diagnosing. Gaucher's disease and detecting carriers by demonstration of deficiency of beta-glucosidase. Radiographs are not diagnostic, but they may provide valuable clues to the nature and extent of lesions in bone, and they are essential in orthopaedic management of Gaucher's disease.
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002114:Calcinosis / Q000000981:diagnostic imaging; D002675:Child, Preschool; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging; D005270:Femur Head / Q000000981:diagnostic imaging; D005776:Gaucher Disease / Q000000981:diagnostic imaging*; D006801:Humans; D008297:Male; D008875:Middle Aged; D011859:Radiography; D012446:Sacroiliac Joint / Q000000981:diagnostic imaging; D013020:South America; D013154:Spleen / Q000000981:diagnostic imaging