Proximal humeral defects in Gaucher's disease

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.