title: Proximal humeral defects in Gaucher's disease.
abstract: Defects in the medial aspect of the proximal humeral metaphysis of two patients with Gaucher's disease are reported and their aetiology discussed. Similar cortical irregularities have been described as a normal variant in children and their presence in patients with an infiltrative disorder suggested as being coincidental. The two reported cases indicate that there is a causal association in Gaucher's disease since the defect persisted post-skeletal maturity in one case and progressed to bilateral pathological fractures of the proximal humeri in the other case. A review of the radiographs of 50 patients, pre-skeletal maturity, presenting with idiopathic scoliosis revealed a defect of the proximal humeral metaphysis in only one case, to give an estimated incidence of this anomaly in the "normal" population of 2%. It is suggested that the presence of this defect is non-specific with a spectrum of occurrence from the normal variant to the clearly pathological. The presence, however, of subtle abnormalities in the underlying bone tend to indicate a pathological entity.
authors.affiliation: Department of Radiology, Royal Orthopaedic Hospital, Northfield, Birmingham.
authors.forename: J K
authors.initials: JK
authors.lastname: Li
authors.forename: P D
authors.initials: PD
authors.lastname: Birch
authors.forename: A M
authors.initials: AM
authors.lastname: Davies
mesh_terms: D000293:Adolescent; D000328:Adult; D001847:Bone Diseases / Q000000981:diagnostic imaging / Q000209:etiology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000000981:diagnostic imaging; D006801:Humans; D006811:Humerus / Q000000981:diagnostic imaging*; D008297:Male; D011859:Radiography; D012016:Reference Values; D012784:Shoulder Fractures / Q000000981:diagnostic imaging* / Q000209:etiology