An adult form of Gaucher's disease with a huge tumour formation of the right tibia.
A case of adult, chronic or non-neuropathic, Gaucher's disease is presented. Severe bony changes, particularly involving the lower limbs developed after a splenectomy had been carried out. Our patient had all the orthopaedic complications of Gaucher's disease. Further, a huge tumour was present in the right tibia caused by the proliferation of Gaucher cells. This feature may be unique but pseudotumour should be listed in the possible orthopaedic complications of Gaucher's disease. The patient was bedridden, but was able to use a wheelchair after his leg was amputated.
D000328:Adult; D001859:Bone Neoplasms / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D005776:Gaucher Disease / Q000150:complications* / Q000235:genetics; D006801:Humans; D008297:Male; D011859:Radiography; D013977:Tibia; D013978:Tibial Fractures / Q000150:complications