title: Oral aspects of Gaucher's disease: a literature review and case report.
abstract: BACKGROUND
  Gaucher's disease (GD) is a lysosomal storage disease with a high incidence in Ashkenazi Jews. The disease is caused by an autosomally recessive inherited deficiency of the lysosomal enzyme glucocerebrosidase, leading to the accumulation of glucocerebroside in macrophages. The lipid-laden macrophages, called Gaucher cells, can be detected in liver, spleen, and bone marrow tissues.
  
  
  METHODS
  A case report of periodontal treatment of a 47-year-old female patient with GD with recurrent gingival hemorrhage and toothache is presented. Periapical radiographs revealed cyst-like lesions in the mandibular premolar-molar regions accompanied by severe apical root resorption, enlargement of the periodontal ligament and bone-marrow spaces, and loss of trabecular structure and radiopaque appearance of bone. An abnormally narrow and sharp coronoid process and effacement of the cortical borders of the mandibular canal were noted.
  
  
  RESULTS
  The patient was diagnosed as having generalized severe chronic periodontitis. Treatment included oral hygiene motivation and instructions, scaling, root planing, and access flap therapy, resulting in resolution of periodontal signs and symptoms and a marked improvement in the patient's feeling of well being.
  
  
  CONCLUSIONS
  Periodontal treatment can be effective in patients with GD. Oral findings may lead to early detection of GD, especially in the absence of clinical symptoms. Dentists should be aware of possible oral and radiographic manifestations of the disease and the role of periodontal treatment in improving patient's oral health and quality of life.
authors.affiliation: Unit of Periodontology, Department of Oral and Dental Sciences, Rambam Health Care Campus, Haifa, Israel. j_horwitz@rambam.health.gov.il
authors.forename: Jacob
authors.initials: J
authors.lastname: Horwitz
authors.forename: Ilan
authors.initials: I
authors.lastname: Hirsh
authors.forename: Eli E
authors.initials: EE
authors.lastname: Machtei
mesh_terms: D003731:Dental Caries / Q000628:therapy*; D005260:Female; D005776:Gaucher Disease / Q000150:complications*; D005884:Gingival Hemorrhage / Q000628:therapy*; D006801:Humans; D008875:Middle Aged; D010518:Periodontitis / Q000209:etiology / Q000601:surgery*; D014098:Toothache / Q000209:etiology / Q000601:surgery*