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Maroteaux-Lamy Syndrome

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Abstract

Mucopolysaccharidoses are a type of lysosomal storage disorders characterized by defect in the degradation of Mucopolysaccharides due to deficiency of specific lysosomal enzymes leading to their accumulation in various tissues. MPS-VI (Maroteaux-Lamy Syndrome) is an autosomal recessive syndrome due to deficiency of enzyme Aryl- Sulfatase -B, and is characterized by characteristic facies, normal intelligence, Dysostosis multiplex, organomegaly, joint stiffness, corneal clouding and striking inclusions in peripheral blood leucocytes. We present an 8-year-old male child with MPS-VI syndrome, confirmed by enzyme assay.

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Authors and Affiliations

  1. Departments of Pathology, S.S. Medical College & Associated G.M. And S.G.M. Hospitals, Rewa, Madhya Pradesh, India

    Alok Sharma & S. K. Jain

  2. Departments of Surgery, S.S. Medical College & Associated G.M. And S.G.M. Hospitals, Rewa, Madhya Pradesh, India

    Siddharth Lakhotia, Alok Sharma, G. P. Shrivastava & S. K. Jain

Authors
  1. Siddharth Lakhotia
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  2. Alok Sharma
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  3. G. P. Shrivastava
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  4. S. K. Jain
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Correspondence to Alok Sharma.

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Lakhotia, S., Sharma, A., Shrivastava, G.P. et al. Maroteaux-Lamy Syndrome. Indian J Pediatr 71, 933–935 (2004). https://doi.org/10.1007/BF02830840

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  • DOI: https://doi.org/10.1007/BF02830840

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