Hurler Syndrome

  • Kalipatnam Seshagiri Rao Professor and head of Paediatrics, Manipal Teaching Hospital, Manipal College of Medical Sciences, Pokhara
  • Sudhir Adhikari Assistant Professor, Department of Paediatrics, Manipal Teaching Hospital, Manipal College of Medical Sciences, Pokhara
  • Sandeep Singh Lecturer, Noble Medical College, Biratnagar
  • Shankar Poudel Lecturer, Gandaki Medical College, Pokhara
  • Sahisnuta Basnet Assistant Professor, Department of Paediatrics, Manipal Teaching Hospital, Manipal College of Medical Sciences, Pokhara
  • Ganesh Bishwakarma Lecturer, Department of Paediatrics, Manipal Teaching Hospital, Manipal College of Medical Sciences, Pokhara
Keywords: Hurler, α-L-iduronidase, Lorinidase

Abstract

We report a case of Hurler syndrome in 10 years old boy diagnosed on the basis of classical clinical and radiological features. Early diagnosis, genetic counseling and regular follow up with recent modalities of treatment can decrease mortality significantly and the child may grow normally.

J Nepal Paediatr Soc 2016;36(3):295-297

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Abstract
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PDF
848
Published
2017-04-16
How to Cite
Rao, K., Adhikari, S., Singh, S., Poudel, S., Basnet, S., & Bishwakarma, G. (2017). Hurler Syndrome. Journal of Nepal Paediatric Society, 36(3), 295-297. https://doi.org/10.3126/jnps.v36i3.16349
Section
Case Reports