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Hurler syndrome: orofacial, dental, and skeletal findings of a case

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Abstract

Hurler syndrome is a disorder of mucopolysaccharide metabolism caused due to inherited deficiencies of lysosomal α-l-iduronidase activity. We present a case of a 15-year-old male patient presenting with clinical and laboratory characteristics of the syndrome. A rare combination of skeletal, ophthalmologic, and dental findings was observed in this patient. Mucopolysaccharides excretion spot test of urine was positive and an assay of alpha-l-iduronidase enzyme was deficient, confirming the clinical diagnosis of Hurler syndrome.

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References

  1. Leroux S, Muller JB, Boutaric E, Busnel A, Lemouel F, Andro-Garçon M, et al. Hurler syndrome: early diagnosis and treatment. Arch Pediatr. 2014;21(5):501–62.

    Article  CAS  PubMed  Google Scholar 

  2. Lowry RB, Renwick DHG. Relative frequency of the Hurler–Hunter syndrome. N Engl J Med. 1971;284:221–2.

    CAS  PubMed  Google Scholar 

  3. McKusick VA, Neufeld EF, Disease TMS. The metabolic basis of inherited disease. 5th ed. New York: McGraw-Hill; 1983. p. 751–77.

    Google Scholar 

  4. D’Aco K et al. Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS Registry. Eur J Pediatr. 2012;171:911–9.

    Article  PubMed Central  PubMed  Google Scholar 

  5. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic & molecular bases of inherited disease, vol. III. 8th ed. New York: McGraw-Hill; 2001.

    Google Scholar 

  6. Keith O, Scully C, Weidmann GM. Orofacial features of Scheie (Hurler–Scheie) syndrome (alpha-L-iduronidase deficiency). Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1990;70:70–4.

    Article  CAS  Google Scholar 

  7. Thomas S, Tandon S. Hurler syndrome: a case report. J Clin Pediatr Dent. 2000;24:335–8.

    CAS  PubMed  Google Scholar 

  8. Worth HM. Hurler’s syndrome. A study of radiologic appearances in the jaws. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1966;22:21–35.

    Article  CAS  Google Scholar 

  9. Gardner DG. The oral manifestations of Hurler’s syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1971;32:46–57.

    Article  CAS  Google Scholar 

  10. Afifi AK, Sato Y, Waziri MH, Bell WE. Computed tomography and magnetic resonance imaging of the brain in Hurler’s disease. J Child Neurol. 1990;5:235–41.

    Article  CAS  PubMed  Google Scholar 

  11. Weisstein JS, Delgado E, Steinbrach L, Hart K, Packman S. Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation. J Pediatr Orthop. 2004;24:97–101.

    Article  PubMed  Google Scholar 

  12. Gorlin RJ, Cohen Jr MM, et al. Syndromes of the head and neck. 4th ed. New York: Oxford Univ. Press (pub.); 2001.

    Google Scholar 

  13. van der Linden MH, Kruyt MC, Sakkers RJ, de Koning TJ, Oner FC, Castelein RM. Orthopaedic management of Hurler’s disease after hematopoietic stem cell transplantation: a systematic review. J Inherit Metab Dis. 2011;34:657–69.

    Article  PubMed Central  PubMed  Google Scholar 

  14. Wilson S, Hashamiyan S, Clarke L, Saftig P, Mort J, Dejica VM, et al. Glycosaminoglycan-mediated loss of cathepsin K collagenolytic activity in MPS I contributes to osteoclast and growth plate abnormalities. Am J Pathol. 2009;175:2053–62.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  15. Herati RS, Knox VW, O’Donnell P, D’Angelo M, Haskins ME, Ponder KP. Radiographic evaluation of bones and joints in mucopolysaccharidosis I and VII dogs after neonatal gene therapy. Mol Genet Metab. 2008;95(3):142–51.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  16. Tandon V, Williamson JB, Cowie RA, Wraith JE. Spinal problems in mucopolysaccharidosis I (Hurler syndrome). J Bone Joint Surg [Br]. 1996;78-B:938–44.

    Article  Google Scholar 

  17. Hurler G. Über einen Typ multipler Abartungen, vorwiegend am Skelettsystem. Z Kinderheilkunde. 1920;24(5-6):220–34. doi:10.1007/BF02222956.

    Article  Google Scholar 

  18. Hingston EJ, Hunter ML, Hunter B, Drage N. Hurler’s syndrome: dental findings in a case treated with bone marrow transplantation in infancy. Int J Paediatr Dent. 2006;16:207–12.

    Article  CAS  PubMed  Google Scholar 

  19. Guven G, Cehreli ZC, Altun C, Sençimen M, Ide S, Bayari SH, et al. Mucopolysaccharidosis type I (Hurler syndrome): oral and radiographic findings and ultrastructural/chemical features of enamel and dentin. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008;105:72–8.

    Article  PubMed  Google Scholar 

  20. Wraith JE, Beck M, Lane R, van der Ploeg A, Shapiro E, Xue Y, et al. Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase). Pediatrics. 2007;120:e37–46.

    Article  PubMed  Google Scholar 

  21. Sjogren P, Pedersen T, Steinmetz H. Mucopolysaccharidosis and anaesthetic risks. Acta Anaesthesiol Scand. 1987;31:214–8.

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Department of Oral Medicine and Radiology, Faculty of Dentistry Jamia Millia Islamia, New Delhi, Delhi, 110025, India

    Arpita Rai Thakur

  2. Department of Oral Medicine and Radiology, S.D.M. College of Dental Sciences & Hospital, Dharwad, Karnataka, 580 009, India

    Venkatesh G. Naikmasur & Atul Sattur

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  1. Arpita Rai Thakur
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  2. Venkatesh G. Naikmasur
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  3. Atul Sattur
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Correspondence to Arpita Rai Thakur.

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Thakur, A.R., Naikmasur, V.G. & Sattur, A. Hurler syndrome: orofacial, dental, and skeletal findings of a case. Skeletal Radiol 44, 579–586 (2015). https://doi.org/10.1007/s00256-014-1982-7

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  • DOI: https://doi.org/10.1007/s00256-014-1982-7

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