Case Report of Child with Mucopolysaccharidosis type VI (Maroteaux-lamy) Syndrome

Document Type : Case Study

Authors

1 Nursing Student, Student Research Committee, Golestan University Of Medical Sciences, Gorgan, Iran.

2 PhD Nursing Student, Student Research Committee, Golestan University Of Medical Sciences, Gorgan, Iran.

3 PhD in Nursing, Associate Professor, Nursing Research Center, Goletsan University of Medical Sciences, Gorgan Iran

Abstract

Background: Mucopolysaccharidosis is lysosomal storage and autosomal recessive disease. The aim of this study was to introduce a child with Mucopolysaccharidosis VI synrome.
Case report: The patient is a 6-year-old male with bilateral hearing loss from infancy, scoliosis at age 2, and short gesture, macrocephaly and strabismus. Mucopolysaccharidosis VI was a definitive diagnosis for him at age 3. Currently the child suffers from aorta valve insufficiency, dyspnea and hepatomegaly.
Conclusion: Mucopolysaccharidosis VI is associated with different side effects throughout the body, and severely affect the quality of life the child.

Keywords

References

1. Vairo F, Federhen A, Baldo G, Riegel M, Burin M, Leistner-Segal S, et al. Diagnostic and treatment strategies in mucopolysaccharidosisvi. Dovepress journal: Th Application of Clinical Genetics. 2015;8:245-55.
2. Bahnar F, Schiedeskamp  C, Krummenauer F, Miebach E, Bajbouj M, Whybra C, et al. Cumulative Incidence Rates of the Mucopolysacharidosis in Germany. J Inherit Metab Dis. 2005;28:1011-7.
3. Malm G, Lund A, Mansson J, Heiberg A. Mucopolysacharidoses in the Scandinavian Contries: Incidence and Prevalence. ActaPaediatr. 2008; 97(11):1577-81.
4. Mojtahedzade F, RashidiGhader F, Alaei AR, Tale A. A Case Report of Mucopolysaccharidosis type Maroteaux-Lamy. Mazandaran University of Medical Sciences Journal 2006;56:136-42.
5. HashemiTayer A, Talebi R. Mucopolysaccharidoses (Maroteaux-Lamy):A case Report. Arak Medical University Journal(AMUJ). 2012;15(61):119-25.
6. Vassili V, Helen N, Paul  H, Sean T. Mucopolysacchaidosis VI. Orphanet Journal of Rare Diseases. 2010:5-10.
9. Koseoglu S, Harmatz P, Turbeville S, Nicely H. Reversed papilledema in an MPS VI patient with galsulfase (Naglazyme) therapy. Int Ophthalmol. 2009;29(4):267-9.
8. Gomes B, Souza Gda S, Viana G. Visual Dysfunction of Type I and VI Mucopolysaccharidosis Patients Evaluated with Visual Evoked Cortical Potential. Case Rep Ophthalmol. 2013;3(1):104-12.
10. Cardoso-Santos A, Azevedo A, Fagondes S, Burin M, Giugliani R, Schwartz I. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength. J Pediatr (Rio J). 2008;84(2):130-5.
11. Arslan N, Mavi A, Kalkan S. Findings of hepatobiliary scintigraphy and liver biopsy in Maroteaux-Lamy syndrome presenting as neonatal cholestasis. Pediatr Int 2006; 48(5): 498-500
12. Thumler A, Miebach E, Lampe C. Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series. J Inherit Metab Dis. 2012;35(6):1071-9.
12. Choudhury I, Tilak MA, Kumar Patra A. A Rare Case of Mucopolysaccharidosis. Ind J Clin Biochem. Jan-Mar 2014;29(1):101-6.
13. Giugliani R, Harmatz  P, Wraith J. Management guidelines for mucopolysaccharidosis VI. Pediatrics. 2007;120(2):405-18.
14. Tootoonchi P, Tootoonchi AS. A review of congenital metabolic diseases, clinical manifestations, diagnosis and treatment. 1, editor. Tehran Tehran University of Medical Sciences Publications Office and Science Survey; 2012.
15. Roubicek M, Gehler J, Spranger J. The clinical spectrum of alphaiduronidasedeficiency. Am J MedGenet. 1985;20:471-81.
16. Golda A, Jurecka A, Tylki-Szymanska  A. Cardiovascular Manifestations of Mucopolysaccaridosis Type VI (Maroteaux-Lamy syndrome). Int J Cardiol. 2011;11(4):213.
18. Koomanaee S, Taghavi Z. Mucopolysaccharidosis VI, A Case Report. J Of Guilan University Of Medical Sciences. 2014;2(89):83-9.
Navid No
Volume 20, Issue 64
March 2018
Pages 44-50

Files

Share

How to cite

Statistics