Rare cases of classical Hurler-Scheie syndrome


  • Tajindra Singh Saluja Department of Oral and Maxillofacial Pathology, Goa Dental College and Hospital, Bambolim, Goa
  • Sujata Satoskar Department of Oral Medicine and Radiology, Goa Dental College and Hospital, Bambolim, Goa
  • Aniket Uday Vaidya Department of Oral Medicine and Radiology, Goa Dental College and Hospital, Bambolim, Goa
  • Mayur D. Dhameliya Department of Oral Medicine and Radiology, Goa Dental College and Hospital, Bambolim, Goa




Mucopolysaccharidosis, Glycosaminoglycan, Autosomal recessive, Syndrome


Mucopolysaccharidosis (MPS) are the rare inherited metabolic disorders typified by deficiency of lysosomal enzymes necessary for glycosaminoglycan (GAG) metabolism. The inadequate metabolism of GAGs results in its accumulation causing multi-organ dysfunction. Of the different MPSs, MPS-I is caused by deficiency of lysosomal enzyme α-L-iduronidase, and inherited in an autosomal recessive manner. The severity of the disease presentation varies widely and classically three phenotypes, Hurler syndrome (MPS IH), Hurler-Scheie syndrome (MPS-IH/S) and Scheie syndrome (MPS-IS) are described. This case report depicts MPS-IH/S in two consecutive male siblings with typical clinical and radiological features that helped in establishing the diagnosis.


Fratantoni JC, Hall CW, Neufeld EF. The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide. Proc Natl Acad Sci USA. 1968;60(2):699-706.

Haskins M, Casal M, Ellinwood NM, Melniczek J, Mazrier H, Giger U. Animal models for mucopolysaccharidoses and their clinical relevance. Acta Paediatr Suppl. 2002;91(439):88-97.

Shull RM, Kakkis ED, McEntee MF, Kania SA, Jonas AJ, Neufeld EF. Enzyme replacement in a canine model of Hurler syndrome. Proc Natl Acad Sci USA. 1994;91(26):12937-41

Muenzer J, Wraith JE, Clarke LA. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009;123(1):19-29.

Coutinho MF, Lacerda L, Alves S. Glycosaminoglycan storage disorders: a review. Biochem Res Int. 2012;2012:471325.

Simmons MA, Bruce IA, Penney S, Wraith E, Rothera MP. Otorhinolaryngological manifestations of the mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol. 2005;69(5):589-95.

Mesolella M, Cimmino M, Cantone E, Marino A, Cozzolino M, Della Casa R, et al. Management of otolaryngological manifestations in mucopolysaccharidoses: our experience. Acta Otorhinolaryngol. 2013;33(4):267-72.

Ashworth JL, Biswas S, Wraith E, Lloyd IC. Mucopolysaccharidoses and the eye. Surv Ophthalmol. 2006;51(1):1-17.

Lin HY, Chuang CK, Chen MR, Lin SM, Hung CL, Chang CY, et al. Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI. Mol Genet Metab. 2016;117(4):431-7.

Palmucci S, Attinà G, Lanza ML, Belfiore G, Cappello G, Foti PV, et al. Imaging findings of mucopolysaccharidoses: a pictorial review. Insights Imaging. 2013;4(4):443-59.

Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, et al. Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Hum Genet. 2001;109(5):503-11.

Oussoren E, Keulemans J, van Diggelen OP, Oemardien LF, Timmermans RG, van der Ploeg AT, et al. Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients. Mol Genet Metab. 2013;109(4):377-81.

Aldenhoven M, Jones SA, Bonney D, Borrill RE, Coussons M, Mercer J, et al. Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines. Biol Blood Marrow Transplant. 2015;21(6):1106-9.