title: Bilateral symmetrical cortical osteolytic lesions in two patients with Gaucher disease.
abstract: Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder characterized by the reduced or absent activity of glucocerebrosidase. The disease is split into three types. Type 3, or chronic neuronopathic GD, manifests with heterogeneous clinical presentations. Skeletal manifestations of GD can include abnormal bone remodeling resulting in the characteristic Erlenmeyer flask deformities, painful bone crises, osteopenia, and an increased frequency of fractures. Osteolytic lesions can also occur but are rare and tend to be large, expanding intramedullary lesions with cortical thinning. We present two adolescent patients with type 3 GD who developed bilateral symmetrical cortical osteolytic lesions. The lesions in both cases demonstrate predominant cortical scalloping with fairly indolent growth. Neither patient manifests some of the more common bony manifestations of GD--bone crises or osteonecrosis. These atypical and unique skeletal findings in two unrelated probands with type 3 GD further expand the extent of phenotypic variation encountered in this single gene disorder.
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, Room 1A213, 35 Convent Drive, MSC 3708, Bethesda, MD 20892-3708, USA.
authors.forename: Ian M
authors.initials: IM
authors.lastname: Oppenheim
authors.forename: Astrid Medina
authors.initials: AM
authors.lastname: Canon
authors.forename: William
authors.initials: W
authors.lastname: Barcenas
authors.forename: Catherine
authors.initials: C
authors.lastname: Groden
authors.forename: Ozlem
authors.initials: O
authors.lastname: Goker-Alpan
authors.forename: Charles S
authors.initials: CS
authors.lastname: Resnik
authors.forename: Ellen
authors.initials: E
authors.lastname: Sidransky
mesh_terms: D000293:Adolescent; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D010014:Osteolysis / Q000175:diagnosis* / Q000209:etiology