title: [A 56-year-old patient with Gaucher's disease sustaining a pathologic subcapital fracture of the humerus].
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.
authors.affiliation: Spital STS AG Thun, Krankenhausstrasse 12, CH-3600, Thun, Switzerland. markus.janke@web.de
authors.forename: M
authors.initials: M
authors.lastname: Janke
authors.forename: M
authors.initials: M
authors.lastname: Börner
authors.forename: E
authors.initials: E
authors.lastname: Mueller-Garamvölgyi
authors.forename: R
authors.initials: R
authors.lastname: Hess
mesh_terms: D001706:Biopsy; D001851:Bone Diseases, Metabolic / Q000175:diagnosis / Q000473:pathology / Q000601:surgery; D001853:Bone Marrow / Q000473:pathology; D001860:Bone Plates; D016025:Bone Transplantation; D003952:Diagnostic Imaging; D005260:Female; D005593:Fracture Fixation, Internal / Q000379:methods*; D017102:Fracture Healing / Q000502:physiology; D005598:Fractures, Spontaneous / Q000175:diagnosis / Q000473:pathology / Q000601:surgery*; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D010014:Osteolysis / Q000175:diagnosis / Q000473:pathology / Q000601:surgery; D012784:Shoulder Fractures / Q000175:diagnosis / Q000473:pathology / Q000601:surgery*