| Literature DB >> 18251007 |
M Janke1, M Börner, E Mueller-Garamvölgyi, R Hess.
Abstract
We present a case of a pathologic humerus fracture in a patient with the initial diagnosis of Gaucher's disease, which is the most frequent form of lipidosis transmitted as an autosomal recessive trait. It often results in orthopaedic complications with pain, osteonecrosis, fractures and joint infractions. If there is cause for suspicion, beta-glucocerebrosidase in white blood cells should be measured because of the important consequences for treatment. Therapy with a modified enzyme is effective in managing the disease.Entities:
Mesh:
Year: 2008 PMID: 18251007 DOI: 10.1007/s00132-008-1197-5
Source DB: PubMed Journal: Orthopade ISSN: 0085-4530 Impact factor: 1.087