Publication: Hurler Syndrome
Date
2016
Article Type
Case Report
Journal Title
Journal ISSN
ISSN 1990-7974 eISSN 1990-7982
Volume Title
Pages
Pages: 295 - 297
Publisher
Nepal Paediatric Society (JNPS)
Abstract
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.
Description
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
Identifier
https://doi.org/10.3126/jnps.v36i3.16349