Otolaryngological findings in mucopolysaccharidosis

Abstract

In this review paper, we reported otolaryngological problems in patients with mucopolysaccharidoses (MPSs). Mucopolysaccharidoses are a group of lysosomal storage diseases, each of which is produced by an inherited deficiency of an enzyme involved in the degradation of acid mucopolysaccharides, now called glycosaminoglycans (GAGs). The mucopolysaccharidoses consist of a group of 7 metabolic disorders, known as mucopolysaccharidoses types I-VII. In all groups, there are clinical and otolaryngological manifestations. In MPS patients, upper airway obstruction, obstructive sleep apnea, restriction of mouth opening, middle ear effusion, hearing and breathing problems, etc. are reported as common otolaryngological findings. Increasing awareness of MPS's among ENT doctors will be a life saving attempt for MPS suspected patients who admit an ENT doctor rather than a pediatrician. In MPS patients, tracheotomy may be difficult due to short neck. Due to mouth opening restriction, patients should be evaluated carefully before tonsillectomy and adenoidectomy operations. Airway problems must be evaluated before anesthesia. All ENT doctors should be noticed to be aware of these problems.

Keywords

• Mucopolysaccharidoses (MPSs), lysosomal storage diseases, short neck, mouth opening restriction, airway problems

Mukopolisakkaridoz hastalarındaki otolarengolojik bulgular

Öz

Bu derleme makalede MPS hastalarındaki otolarengolojik sorunları raporladık. Mukopolisakkaridozlar (MPS'ler) her biri mukopolisakkaritlerin parçalanmasında rol alan ve şimdilerde glikozaminoglikanlar denilen (GAG'ler) kalıtsal bir enzim eksikliği nedeniyle oluşan bir lizozom depo hastalıkları grubudur. Mukopolisakkaridozlar, mukopolisakkaridoz tip 1-VII diye bilinen 7 metabolizma hastalığı grubunu oluştururlar. Grupların tümünde klinik ve otolaringolojik belirtiler görülür. Mukopolisakkaridoz hastalarında sık görülen otolarengolojik bulgular olarak üst hava yolu obstrüksiyonu, obstrüktif uyku apnesi, ağız açmanın kısıtlanması, orta kulak efüzyonu, işitme ve soluma sorunları vb. bildirilmektedir. KBB uzmanları arasında MPS'ler konusunda farkındalığın artırılması çocuk doktorundan ziyade bir KBB uzmanına giden MPS'den kuşkulanılan hastalar için yaşam kurtarıcı bir çaba olacaktır. Mukopolisakkaridoz hastalarında kısa boyun nedeniyle trakeotomi yapmak zorlaşabilir. Ağız açmanın kısıtlanması nedeniyle tonsillektomi ve adsenoidektomi ameliyatlarından önce hastalar dikkatle değerlendirilmelidir. Anesteziden önce hava yolu sorunları değerlendirilmelidir. Tüm KBB uzmanlarının bu sorunların farkınnda olmaları konusunda dikkati çekilmelidir.

Anahtar Kelimeler

• Mukopolisakkaridozlar (MPS'ler), lizozom depo hastalıkları, kısa boyun, ağız açmanın kısıtlanması, hava yolu sorunları

Kaynakça

1. Baloghova J, Schwartz RA, Baranova Z, et al. Mucopolysacchari- doses Types I–VII. [cited 2014 Aug 21]. Available from: http://emedicine.medscape.com/article/1115193-overview.
2. Yano S, Moseley K, Pavlova Z. Postmortem studies on a patient with mucopolysaccharidosis type I: Histopathological findings after one year of enzyme replacement therapy. J Inherit Metab Dis 2009;Suppl 1:S53–7.
3. Gönüldafl B, Yılmaz T, Sivri HS, et al. Mucopolysaccharidosis: otolaryngologic findings, obstructive sleep apnea and accumula- tion of glucosaminoglycans in lymphatic tissue of the upper air- way. Int J Pediatr Otorhinolaryngol 2014;78:944–9.
4. Shih SL, Lee YJ, Lin SP, Sheu CY, Blickman JG. Airway changes in children with mucopolysaccharidoses. Acta Radiol 2002;43: 40–3.
5. Muenzer J. The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations. J Pediatr 2004; 144(5 Suppl.):S27–S34.
6. Simmons MA, Bruce IA, Penney S, Wraith E, Rothera MP. Otorhinolaryngological manifestations of the mucopolysacchari- doses. Int J Pediatr Otorhinolaryngol 2005;69:589–95.
7. Leroux S, Muller JB, Boutaric E, et al. Hurler syndrome: early diagnosis and treatment. Arch Pediatr 2014;21:501–6.
8. D’Aco K, Underhill L, Rangachari L, et al. Diagnosis and treat- ment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr 2012;171:911–9.

9. Pastores GM. Musculoskeletal complications encountered in the lysosomal storage disorders. Best Pract Res Clin Rheumatol 2008; 22:937–47.
10. Kariya S, Schachern PA, Nishizaki K, Paparella MM, Cureoglu S. Inner ear changes in mucopolysaccharidosis type I/Hurler syn- drome. Otol Neurotol 2012;33:1323–7.
11. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, editor. The metabolic and molecular bases of inherited dis- ease. New York, NY: McGraw-Hill; 2001. p. 3421–52.
12. Dorfman A, Lorincz AE. Occurence of urinary acid mucoploysac- charides in the Hurler syndrome. Proc Natl Acad Sci USA 1957; 43:443–6.
13. Brusius-Facchin AC, Abrahão L, Schwartz IV, et al. Extension of the molecular analysis to the promoter region of the iduronate 2- sulfatase gene reveals genomic alterations in mucopolysaccharido- sis type II patients with normal coding sequence. Gene 2013;526: 150–4.
14. Timms KM, Lu F, Shen Y, et al. 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Genome Res 1995;5:71–8.
15. Timms KM, Bondeson ML, Ansari-Lari MA, et al. Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet 1997;6:479–86.
16. Lowry RB, Applegarth DA, Toone JR, MacDonald E, Thunem NY. An update on the frequency of mucopolysaccharide syn- dromes in British Columbia. Hum Genet 1990;85:389–90.
17. Schaap T, Bach G. Incidence of mucopolysaccharidoses in Israel: is Hunter disease a "Jewish disease"? Hum Genet 1980;56:221–3.
18. Young ID, Harper PS. Incidence of Hunter's syndrome. Hum Genet 1982;60:391–2.
19. Wraith JE, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J. Initial report from the Hunter Outcome Survey. Genet Med 2008;10:508–16.
20. Hopkins R, Watson JA, Jones JH, Walker M. Two cases of Hunter’s syndrome: the anaesthetic and operative difficulties in oral surgery. Br J Oral Surg 1973;10:286–99.
21. Downs AT, Crisp T, Ferretti G. Hunter’s syndrome and oral manifestations: a review. Pediatr Dent 1995;17:98–100.
22. Young ID, Harper PS. The natural history of the severe form of Hunter’s syndrome: a study based on 52 cases. Dev Med Child Neurol 1983;25:481–9.
23. Young ID, Harper PS. Mild form of Hunter’s syndrome: clinical delineation based on 31 cases. Arch Dis Child 1982;57:828–36.
24. Peck JE. Hearing loss in Hunter’s syndrome: mucopolysacchari- dosis II. Ear Hear 1984;5:243–6.
25. Heron B, Mikaeloff Y, Froissart R, et al. Incidence and natural his- tory of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am J Med Genet A 2011;155A:58–68.
26. Meyer A, Kossow K, Gal A, et al. Scoring evaluation of the natu- ral course of Mucopolysaccharidosis type IIIA (Sanfilippo syn- drome type A). Pediatrics 2007;120:e1255–61.
27. Mahon LV, Lomax M, Grant S, et al. Assessment of sleep in chil- dren with mucopolysaccharidosis type III. PLoS One 2014;9(2):e84128.
28. Cleary MA, Wraith JE. Management of mucopolysaccharidosis type-III. Arch Dis Child 1993;69:403–6.
29. Van De Kamp JJP, Niermeijer MF, Von Figura K, Giesberts MAH. Genetic heterogeneity and clinical variability in the Sanfilippo syndrome types A B and C. Clin Genet 1981;20: 152–60.
30. Ruijter GJG, Valstar MJ, de Kamp JM, et al. Clinical and genetic spectrum of Sanfilippo type c (MPS IIIC) disease in the Netherlands. Mol Genet Metab 2008;93:104–11.
31. Zhang WM, Shi HP, Meng Y, Li BT, Qiu ZQ, Liu JT. Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome). [Article in Chinese] Zhonghua Er Ke Za Zhi 2008;46:407–10.
32. Fan X, Tkachyova I, Sinha A, Rigat B, Mahuran D. Characterization of the biosynthesis, processing and kinetic mech- anism of action of the enzyme deficient in mucopolysaccharidosis IIIC. PLoS One 2011;6:e24951.
33. Ouesleti S, Brunel V, Ben Turkia H, et al. Molecular characteri- zation of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients. Clin Chim Acta 2011;412:2326–31.
34. Valstar MJ, Neijs S, Bruggenwirth HT, et al. Mucopolysacchari- dosis type IIIA: clinical spectrum and genotype-phenotype corre- lations. Ann Neurol 2010;68:876–87.
35. Vitry S, Ausseil J, Hocquemiller M, Bigou S, Dos Santos Coura R, Heard JM. Enhanced degradation of synaptophysin by the protea- some in mucopolysaccharidosis type IIIB. Mol Cell Neurosci 2009;41:8–18.
36. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999;281:249–54.
37. National Center for Biotechnology Information. Online Mendelian inheritance of man. [cited 2013 Jan 29]. Available from: http://www.ncbi.nlm.nih.gov/omim.
38. Montano AM, Tomatsu S, Gottesman GS, Smith M, Orii T. International Morquio A Registry: clinical manifestation and nat- ural course of Morquio A disease. J Inherit Metab Dis 2007;30: 165–74.
39. Baehner F, Schmiedeskamp C, Krummenauer F, et al. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 2005;28:1011–7.
40. Pinto R, Caseiro C, Lemos M, et al. Prevalence of lysosomal stor- age diseases in Portugal. Eur J Hum Genet 2004;12:87–92.
41. Young RD, Liskova P, Pinali C, et al. Large proteoglycan com- plexes and disturbed collagen architecture in the corneal extracel- lular matrix of mucopolysaccharidosis type VII (Sly syndrome). Invest Ophthalmol Vis Sci 2011;52:6720–8.
42. Wallace SP, Prutting CA, Gerber SE. Degeneration of speech, language, and hearing in a patient with mucopolysaccharidosis VII. Int J Pediatr Otorhinolaryngol 1990;19:97–107.
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46. Please cite this article as: Cingi C, Bayar Muluk N, Hancı D, Şahin E, Acar M. Otolaryngological findings in mucopolysaccharidosis. J Med Updates 2014;4(3):122–129.