Jaw involvement in Gaucher disease: a not-so-uncommon feature of a rare disease

Abstract

Gaucher disease is an inborn error of metabolism resulting from the deficiency of the enzyme glucocerebrosidase and consequent accumulation of glucocerebroside within the lysosomes of macrophages. The clinical presentation is very diverse, depending on the age of onset and the severity of the disease, and results from the progressive infiltration of lipid-laden cells in various organs. Common manifestations of Gaucher disease include enlarged liver and/or spleen (hepatosplenomegaly), bone marrow disease (pancytopenia) and bone abnormalities, which are extremely variable and can affect multiple skeletal sites. While bone involvement of long bones and vertebrae is a well-recognised feature of Gaucher disease, jawbone involvement is less commonly noted. Here, we describe a case of a 63-year-old patient with type 1 Gaucher disease with a history of long-term use of bisphosphonates and who had presented with dental pain, with subsequent investigations confirming the radiological features of jaw involvement in Gaucher disease, including periodontal disease.

Keywords: dentistry and oral medicine; haematology (incl blood transfusion); lipid disorders.

Figure 1

(A) T1-weighted MR image shows low abnormal signal within both femora, indicating marrow infiltration by Gaucher cells. (B) T2-weighted MR image shows areas of low signal within the distal diaphysis of both femora in keeping with established bony infarction. (C) T1-weighted MR image shows diffuse low signal within both tibiae, indicating marrow involvement by Gaucher cells. (D) Bone mineral density by dual-energy X-ray absorptiometry shows osteoporotic values (T-score −2.8) in the lumbar spine.

Figure 2

Panoramic radiograph showing extensive restorations on the dentition, sparse trabecular pattern of the bone in the mandible inferior to the molars bilaterally and opacification of the maxillary sinuses bilaterally secondary to proliferation of haematopoietic tissue and medullary expansion associated with Gaucher disease.