Rare cases of classical Hurler-Scheie syndrome

Authors

  • 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

DOI:

https://doi.org/10.18203/2349-3291.ijcp20162412

Keywords:

Mucopolysaccharidosis, Glycosaminoglycan, Autosomal recessive, Syndrome

Abstract

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.

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Published

2016-12-21