Morquio disease with CNS involvement: a rare association

Authors

  • Shinabi Pal MBBS, MD, Post Graduate Trainee, Department of Paediatrics, RG Kar Medical College, Kolkata
  • Chandrashekhar Dey MBBS, MD, Post Graduate Trainee, Department of Paediatrics, RG Kar Medical College, Kolkata
  • Nilanjan Ghosh MBBS, RMO cum Clinical Tutor, Department of Paediatrics, RG Kar Medical College, Kolkata
  • Shabarna Roy MBBS, RMO Cum Clinical Tutor, Paeditrics, Department of Paediatrics, RG Kar Medical College, Kolkata
  • Kaustav Nayek Professor of Paediatrics, Department of Paediatrics, RG Kar Medical College, Kolkata
  • Malay Kumar Dasgupta MBBS, MD, Professor of Paediatrics, Department of Paediatrics, RG Kar Medical College, Kolkata

DOI:

https://doi.org/10.3126/jnps.v34i2.9298

Keywords:

Morquio disease, mucopolysaccharidosis(MPS), glycosaminoglycans

Abstract

Morquio syndrome is a rare type of mucopolysaccharidosis. Our patient presented with uncontrolled seizures and gross skeletal deformity. He was suspected to be suffering from mucopolysaccharidosis based on his disease presentation but the diagnosis could be made as Morquio syndrome on the basis of the presence of keratan sulphate in the urine.

DOI: http://dx.doi.org/10.3126/jnps.v34i2.9298

J Nepal Paediatr Soc 2014;34(2):157-159

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Author Biography

Shinabi Pal, MBBS, MD, Post Graduate Trainee, Department of Paediatrics, RG Kar Medical College, Kolkata

Pediatrics department

Post Graduate Trainee

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Published

2014-10-30

How to Cite

Pal, S., Dey, C., Ghosh, N., Roy, S., Nayek, K., & Dasgupta, M. K. (2014). Morquio disease with CNS involvement: a rare association. Journal of Nepal Paediatric Society, 34(2), 157–159. https://doi.org/10.3126/jnps.v34i2.9298

Issue

Section

Brief Reports/Case Reports/Case Series