title: Resolution of a proximal humeral defect in type-1 Gaucher disease by enzyme replacement therapy.
abstract: Although rarely they are a normal variant in children, significant defects in the medial aspect of the proximal humeral metaphysis occur in patients with Gaucher disease due to cortical infiltration and erosion of the periosteum by Gaucher cells. Such changes may lead to pathological fractures in Gaucher patients. These crescentic erosions resolved in a 19-year-old patient with type-1 Gaucher disease following enzyme replacement therapy.
mesh_terms: D000328:Adult; D005260:Female; D005776:Gaucher Disease / Q000000981:diagnostic imaging / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000627:therapeutic use*; D006801:Humans; D006811:Humerus / Q000000981:diagnostic imaging*; D011859:Radiography
chemical_list: C070292:alglucerase; D005962:Glucosylceramidase