Home Dental Radiology Clinical and radiological evaluation of dentomaxillofacial involvement in Type I Gaucher disease

Clinical and radiological evaluation of dentomaxillofacial involvement in Type I Gaucher disease

by adminjay


  • 1.

    Gaucher P. De l’épithélioma primitif de la rate. MD Thèse, Faculté de Médecine de Paris; 1882.

  • 2.

    Grabowski GA, Zimran A, Ida H. Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry. Am J Hematol. 2015;90:12–8.

    Article 

    Google Scholar
     

  • 3.

    Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher’s disease. Lancet. 2008;372:1263–71.

    PubMed 
    Article 

    Google Scholar
     

  • 4.

    Saudubray J-M, Garcia-Cazorla A. Clinical approach to inborn errors of metabolism in pediatrics In: Proceedings of the Inborn metabolic diseases. Springer; 2016. pp. 3–70.

  • 5.

    Mikosch P, Hughes D. An overview on bone manifestations in Gaucher disease. Wien Med Wochenschr. 2010;160:609–24.

    PubMed 
    Article 

    Google Scholar
     

  • 6.

    Zimran A, Kay A, Gelbart T, Garver P, Thurston D, Saven A, et al. Gaucher disease: clinical, laboratory, radiologic, and genetic features of 53 patients. Medicine. 1992;71:337–53.

    PubMed 
    Article 

    Google Scholar
     

  • 7.

    Cremin B, Davey H, Goldblatt J. Skeletal complications of type I Gaucher disease: the magnetic resonance features. Clin Radiol. 1990;41:244–7.

    PubMed 
    Article 

    Google Scholar
     

  • 8.

    Sales J, Hunt A. Gaucher’s disease and portal hypertension. Br J Surg. 1970;57:225–8.

    PubMed 
    Article 

    Google Scholar
     

  • 9.

    Medoff AS, Bayrd ED. Gaucher’s disease in 29 cases: hematologic complications and effect of splenectomy. Ann Intern Med. 1954;40:481–92.

    PubMed 
    Article 

    Google Scholar
     

  • 10.

    James S, Stromeyer F, Stowens D, Barranger J. Gaucher disease: hepatic abnormalities in 25 patients. Prog Clin Biol Res. 1982;95:131–42.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • 11.

    Bender I. Dental observations in Gaucher’s disease. J Dent Res. 1938;17:359–69.

    Article 

    Google Scholar
     

  • 12.

    Sela J, Polliack A, Ulmansky M. Involvement of the mandible in Gaucher’s disease: report of a case with post-mortem findings. Br J Oral Surg. 1971;9:246–50.

    Article 

    Google Scholar
     

  • 13.

    Hall MB, Brown RW, Baughman RA. Gaucher’s disease affecting the mandible. J Oral Maxillofac Surg. 1985;43:210–3.

    PubMed 
    Article 
    PubMed Central 

    Google Scholar
     

  • 14.

    Schwartz MR, Weycer JS, McGavran MH. Gaucher’s disease involving the maxillary sinuses. Arch Otolaryngol Head Neck Surg. 1988;114:203–6.

    PubMed 
    Article 
    PubMed Central 

    Google Scholar
     

  • 15.

    Lustmann J, Ben-Yehuda D, Somer M, Ulmansky M. Gaucher’s disease affecting the mandible and maxilla: report of a case. Int J Oral Maxillofac Surg. 1991;20:7–8.

    PubMed 
    Article 
    PubMed Central 

    Google Scholar
     

  • 16.

    Heasman P. Mandibular lesions in Gaucher disease. Oral Surg Oral Med Oral Pathol. 1991;72:506.

    PubMed 
    Article 

    Google Scholar
     

  • 17.

    Regenye GR, Huberman BA, Itkin AB. Gaucher’s disease: Case report of mandibular trauma. Oral Surg Oral Med Oral Pathol. 1992;73:23–6.

    PubMed 
    Article 

    Google Scholar
     

  • 18.

    Bender I, Bender A. Dental observations in Gaucher’s disease: review of the literature and two case reports with 13-and 60-year follow-ups. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1996;82:650–9.

    PubMed 
    Article 

    Google Scholar
     

  • 19.

    Karabulut N, Ahmetoglu A, Ariyürek M, Erol C, Gürakan F. Obliteration of maxillary and sphenoid sinuses in Gaucher’s disease. Br J Radiol. 1997;70:533–5.

    PubMed 
    Article 

    Google Scholar
     

  • 20.

    Horwitz J, Hirsh I, Machtei EE. Oral aspects of Gaucher’s disease: a literature review and case report. J Periodontol. 2007;78:783–8.

    PubMed 
    Article 
    PubMed Central 

    Google Scholar
     

  • 21.

    Lisboa GM, de Guedes VL. Exodontia in patient with Gaucher’s disease. Rev Bras Hematol Hemoter. 2011;33:481–2.

    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • 22.

    Zeevi I, Anavi Y, Kaplan I, Zadik Y. Jaws features in Type 1 Gaucher disease. J Oral Maxillofac Surg. 2013;71:694–701.

    PubMed 
    Article 
    PubMed Central 

    Google Scholar
     

  • 23.

    Ahmadieh A, Farnad F, Sedghizadeh PP. Gaucher disease with jawbone involvement: a case report. J Med Case Rep. 2014;8:360.

    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • 24.

    Watanabe PCA, Santos E, Faria V, Watanabe P. Literature review: dental aspects in gaucher disease. Int J Odontostomat. 2018;12:147–51.

    Article 

    Google Scholar
     

  • 25.

    Saranjam HR, Sidransky E, Levine WZ, Zimran A, Elstein D. Mandibular and dental manifestations of Gaucher disease. Oral Dis. 2012;18:421–9.

    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • 26.

    Carter LC, Fischman SL, Mann J, Elstein D, Stabholz A, Zimran A. The nature and extent of jaw involvement in Gaucher disease: observations in a series of 28 patients. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1998;85:233–9.

    PubMed 
    Article 
    PubMed Central 

    Google Scholar
     

  • 27.

    Fischman SL, Elstein D, Sgan-Cohen H, Mann J, Zimran A. Dental profile of patients with Gaucher disease. BMC Oral Health. 2003;3:4.

    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • 28.

    Givol N, Goldstein G, Peleg O, Shenkman B, Zimran A, Elstein D, et al. Thrombocytopenia and bleeding in dental procedures of patients with Gaucher disease. Haemophilia. 2012;18:117–21.

    PubMed 
    Article 
    PubMed Central 

    Google Scholar
     

  • 29.

    Nobre R, Ribeiro A, Alves-Junior S, Tuji F, Das Rodrigues Pinheiro MG, Pinheiro L, et al. Dentomaxillofacial manifestations of Gaucher’s disease: preliminary clinical and radiographic findings. Dentomaxillofac Radiol. 2012;41:541–7.

    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • 30.

    Brady RO, Kanfer JN, Shapiro D. Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher’s disease. Biochem Biophys Res Commun. 1965;18:221–5.

    PubMed 
    Article 

    Google Scholar
     

  • 31.

    Lukina E, Watman N, Arreguin EA, Dragosky M, Iastrebner M, Rosenbaum H, et al. Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study. Blood. 2010;116:4095–8.

    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • 32.

    Boot RG, Renkema GH, Verhoek M, Strijland A, Bliek J, de Meulemeester TM, et al. The human chitotriosidase gene. Nature of inherited enzyme deficiency. J Biol Chem. 1998;273:25680–5.

    PubMed 
    Article 

    Google Scholar
     

  • 33.

    Rosenthal DI, Doppelt SH, Mankin HJ, Dambrosia JM, Xavier RJ, McKusick KA, et al. Enzyme replacement therapy for Gaucher disease: skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics. 1995;96:629–37.

    PubMed 

    Google Scholar
     

  • 34.

    Elstein D, Hadas-Halpern I, Itzchaki M, Lahad A, Abrahamov A. Effect of low-dose enzyme replacement therapy on bones in Gaucher disease patients with severe skeletal involvement. Blood Cells Mol Dis. 1996;22:104–11.

    PubMed 
    Article 

    Google Scholar
     

  • 35.

    Itzchaki M, Lebel E, Dweck A, Patlas M, Hadas-Halpern I, Zimran A, et al. Orthopedic considerations in Gaucher disease since the advent of enzyme replacement therapy. Acta Orthop Scand. 2004;75:641–53.

    PubMed 
    Article 

    Google Scholar
     

  • 36.

    Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, et al. Therapeutic goals in the treatment of Gaucher disease. In: Proceedings of the Seminars in hematology. Elsevier, pp 4–14.

  • 37.

    Grabowski GA, Barton NW, Pastores G, Dambrosia JM, Banerjee TK, McKee MA, et al. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med. 1995;122:33–9.

    PubMed 
    Article 

    Google Scholar
     

  • 38.

    Mohamed YSA, Zayet MK, Omar OM, El-Beshlawy AM. Jaw bones’ involvement and dental features of type I and type III Gaucher disease: a radiographic study of 42 paediatric patients. Eur Arch Paediatr Dent. 2020;21:241–7.

    PubMed 
    Article 
    PubMed Central 

    Google Scholar
     

  • 39.

    Serratrice C, Carballo S, Serratrice J, Stirnemann J. Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy. Core Evid. 2016;11:37.

    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • 40.

    Rasmusson L, Abtahi J. Bisphosphonate associated osteonecrosis of the jaw: an update on pathophysiology, risk factors, and treatment. Int J Dent. 2014;2014:471035.

    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • 41.

    Browne WG. Oral pigmentation and root resorption in Gaucher’s disease. J Oral Surg. 1977;35:153–5.

    PubMed 

    Google Scholar
     

  • 42.

    Bildman B, Martinez M Jr, Robinson LH. Gaucher’s disease discovered by mandibular biopsy: report of case. J Oral Surg. 1972;30:510–2.

    PubMed 

    Google Scholar
     

  • 43.

    Weigler JM, Seldin R, Minkowitz S. Gaucher’s disease involving the mandible: report of case. J Oral Surg. 1967;25:158–63.

    PubMed 

    Google Scholar
     

  • 44.

    Michanowicz AE, Michanowicz JP, Stein GM. Gaucher’s disease. Report of a case. Oral Surg Oral Med Oral Pathol. 1967;23:36–42.

    PubMed 
    Article 

    Google Scholar
     

  • 45.

    Spiegel LH. Gaucher’s disease. Oral Surg Oral Med Oral Pathol. 1957;10:158–66.

    PubMed 
    Article 

    Google Scholar
     

  • 46.

    Kumar NS, John RR, Rethish E. Relatively rare entity of avascular necrosis of maxillary bone caused by gaucher’s disease—a case report. J Oral Maxillofac Surg. 2012;70:2590–5.

    PubMed 
    Article 

    Google Scholar
     

  • 47.

    Wenstrup R, Roca-Espiau M, Weinreb N, Bembi B. Skeletal aspects of Gaucher disease: a review. Br J Radiol. 2002;75:A2–12.

    PubMed 
    Article 

    Google Scholar
     

  • 48.

    Wasserstein MP, Martignetti JA, Zeitlin R, Lumerman H, Solomon M, Grace ME, et al. Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation. Am J Med Genet. 1999;84:334–9.

    PubMed 
    Article 

    Google Scholar
     

  • 49.

    Bender I. Dental observations in Gaucher’s disease: A twenty-year follow-up. Oral Surg Oral Med Oral Pathol. 1959;12:546–61.

    PubMed 
    Article 

    Google Scholar
     

  • 50.

    Zadik Y, Aktaş A, Drucker S, Nitzan DW. Aneurysmal bone cyst of mandibular condyle: a case report and review of the literature. J Craniomaxillofac Surg. 2012;40:e243–8.

    PubMed 
    Article 
    PubMed Central 

    Google Scholar
     

  • 51.

    Zadik Y, Yitschaky O, Neuman T, Nitzan DW. On the self-resolution nature of the buccal bifurcation cyst. J Oral Maxillofac Surg. 2011;69:e282–4.

    PubMed 
    Article 
    PubMed Central 

    Google Scholar
     

  • 52.

    Chikui T, Yonetsu K, Yoshiura K, Miwa K, Kanda S, Ozeki S, et al. Imaging findings of lipomas in the orofacial region with CT, US, and MRI. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1997;84:88–95.

    PubMed 
    Article 
    PubMed Central 

    Google Scholar
     

  • 53.

    Goldman H. Gaucher’s disease. Compendium (Newtown, Pa). 1988;9:42–3.


    Google Scholar
     



  • Source link

    Related Articles