Resolution of a proximal humeral defect in type-1 Gaucher disease by enzyme replacement therapy.

Author(s): Pastores GM, Hermann G, Norton K, Desnick RJ

Affiliation(s): Department of Human Genetic, Mount Sinai School of Medicine, New York, NY 10029, USA.

Publication date & source: 1995, Pediatr Radiol., 25(6):486-7.

Publication type: Case Reports

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.