Acta Med. 2019, 62: 161-165

https://doi.org/10.14712/18059694.2020.6

Mucopolysaccharidosis Type I in Children, a Forgotten Diagnosis Responsible for Undiagnosed Musculoskeletal Complaints: Report of Two Cases

Soheila Hoseinzadeh Moghadama, Masood Ghahvechia,b, Fatemeh Mozafaria, Fatemeh Sayarifardc,d, Mahdieh-Sadat Mousavia,c, Reza Rostamie, Vahid Ziaeea,c,f

aChildren’s Medical Center, Pediatrics Center of Excellence, Tehran, Iran
bDepartment of Physical Medicine, Tehran University of Medical Sciences, Tehran, Iran
cDepartment of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran
dGrowth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran
eDepartment of Psychology and Education, School of Psychology and Education Science, University of Tehran, Tehran, Iran
fPediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran

Received May 24, 2019
Accepted September 4, 2019

References

1. Neufeld EU, Muenzer J. The mucopolysaccharidoses. In: Scriver CR (ed). The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill, 2001; p. 3421–52.
2. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford) 2011; 50(Suppl 5): v4–12. <https://doi.org/10.1093/rheumatology/ker394>
3. Morishita K, Petty RE. Musculoskeletal manifestations of mucopolysaccharidoses. Rheumatology (Oxford) 2011; 50(Suppl 5): v19–25. <https://doi.org/10.1093/rheumatology/ker397>
4. Petty RE, Southwood TR, Manners P, et al. International League of Associations for Rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol 2004; 31(2): 390–2.
5. Rosenthal J. Hematopoietic cell transplantation for storage diseases. In: Forman SJ, Negrin RS, Antin JH, Appelbaum FR (eds). Thomas’ Hematopoietic Cell Transplantation: Stem Cell Transplantation. 5th Ed. Oxford: John Wiley & Sons, 2016; p. 885–912.
6. Schulze-Frenking G, Jones SA, Roberts J, et al. Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II. J Inherit Metab Dis 2011; 34(1): 203–8. <https://doi.org/10.1007/s10545-010-9215-2> <PubMed>
7. Vijay S, Wraith JE. Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I. Acta Paediatr 2005; 94(7): 872–7. <https://doi.org/10.1111/j.1651-2227.2005.tb02004.x>
8. Manger B. Rheumatological manifestations are key in the early diagnosis of mucopolysaccharidosis type I. European Musculoskeletal Review 2008; p. 1–6.
9. Wraith JE. The mucopolysaccharidoses: aclinical review and guide to management. Arch Dis Child 1995; 72: 263–7. <https://doi.org/10.1136/adc.72.3.263> <PubMed>
10. Matte U, Yogalingam G, Brooks D, et al. Identification and characterization of 13 new mutations in mucopolysaccharidosistype I patients. Mol Genet Metab 2003; 78: 37–43. <https://doi.org/10.1016/S1096-7192(02)00200-7>
11. Terlato N, Cox G. Can mucopolysacchari-dosis type I disease severity be predictedbased on a patient’s genotype? A comprehen-sive review of the literature. Genet Med 2003; 5: 286–94. <https://doi.org/10.1097/01.GIM.0000078027.83236.49>
12. Cimaz R, Vijay S, Haase C, et al. Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome. Clin Exp Rheumatol 2006; 24(2): 196–202.
13. Aldenhoven M, Sakkers RJ, Boelens J, et al. Musculoskeletal manifestations of lysosomal storage disorders. Ann Rheum Dis 2009; 68(11): 1659–65. <https://doi.org/10.1136/ard.2008.095315>
14. Rakesh N, Eison K, Shoval A, et al. The Mysterious Tale of Wilson’s Disease Spasticity Presenting as a Radial Nerve Palsy: A case report. Am J Physical Med Rehab 2018; 97(3): a1–a131. (Abstract)
15. Aste R, Salaris E, Pische MG, et al. Mixed-type polyneuropathy in Wilson’s Disease. Clin Neurophysiol 2013; 124(11): e204–e205. (Abstract) <https://doi.org/10.1016/j.clinph.2013.06.097>
16. Silveri CP, Kaplan FS, Fallon MD, et al. Hurler syndrome with special reference to histologic abnormalities of the growth plate. Clin Orthop Relat Res 1991; 269: 305–11.
17. Cimaz R, Coppa GV, Kone-Paut I, et al. Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis. Pediatr Rheumatol Online J 2009; 7: 18. <https://doi.org/10.1186/1546-0096-7-18> <PubMed>
18. Bahadir C, Kurtulus D, Cihandide E. Mucopolysaccharidosis type- IS presenting with onset of carpal tunnel syndrome at adolescence. J Clin Rheumatol 2009; 15(8): 402–4. <https://doi.org/10.1097/RHU.0b013e3181bedf12>
19. al-Qattan MM, Thomson HG, Clarke HM. Carpal tunnel syndrome in children and adolescents with no history of trauma. J Hand Surg Br 1996; 21(1): 108–11. <https://doi.org/10.1016/S0266-7681(96)80023-4>
20. Yuen A, Dowling G, Johnstone B, et al. Carpal tunnel syndrome in children with mucopolysaccaridoses. J Child Neurol 2007; 22(3): 260–3. <https://doi.org/10.1177/0883073807300528>
21. Van Heest AE, House J, Krivit W, Walker K. Surgical treatment of carpal tunnel syndrome and trigger digits in children with mucopolysaccharide storage disorders. J Hand Surg Am 1998; 23(2): 236–43. <https://doi.org/10.1016/S0363-5023(98)80120-2>
22. Colmenares-Bonilla D, Colin-Gonzalez C, Gonzalez-Segoviano A, et al. Diagnosis of Mucopolysaccharidosis Based on History and Clinical Features: Evidence from the Bajio Region of Mexico. Cureus 2018; 10(11): e3617.
23. Braunlin EA, Stauffer NR, Peters CH, et al. Usefulness of bone marrow transplantation in the Hurler syndrome. Am J Cardiol 2003; 92(7): 882–6. <https://doi.org/10.1016/S0002-9149(03)00909-3>
24. Chih-Kuang C, Shuan-Pei L, Shyue-Jye L, Tuen-Jen W. MPS screening methods, the berry spot and acid turbidity tests, cause a high incidence of false-negative results in Sanfilippo and Morquio Syndromes. J Clin Lab Analys 2002; 16: 253–8. <https://doi.org/10.1002/jcla.10051> <PubMed>
25. Abdi M, Hakhamaneshi MS, Alaei MR, et al. Validation of Urinary Glycosaminoglycans in Iranian patients with Mucopolysaccharidase type I: The effect of urine sedimentation characteristics. Iran J Child Neurol 2014; 8(4): 39–45.
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