Hurler’s Syndrome - A Case Report (Mucopolysaccharidosis Type-1H)

Authors

  • AHM Tohurul Islam Senior Consultant, Dept. of Radiology & Imaging. Rajshahi Medical College, Rajshahi
  • Elora A Leema Meical Officer, Department of Radiology & Imaging, SZ Medical College Hospital, Bogra
  • Tapos K Das Radiologist, Department of Radiology & Imaging, SZ Medical College Hospital, Bogra
  • O Ibne Ali Associate Professor, Department of Physiology, Rajshahi Medical College. Rajshahi
  • MH Rahman Associate Professor, Department of Radiology & Imaging, Rajshahi Medical College, Rajshahi
  • Z Nahar Assistant Professor, Department of Obstetrics & Gynaecology, Rajshahi Medical College, Rajshahi

DOI:

https://doi.org/10.3329/taj.v24i2.37546

Abstract

A girl named Tania, aged 5yrs was brought to Shaheed Ziaur Rahman Medical College Hospital, Bogra with the complains of swelling of both legs for 5days & low grade intermittent fever for 1month & she also had severe mental retardation, facial dysmorphism, hepatosplenomegaly, umbilical hernia, corneal clouding, large calvaria & features of dysostosis multiplex. Her clinical as well as radiological features arouse strong suspicion suffering from a rare genetic disease (autosomal recessive) hurler’s syndrome though it wasn’t confirmed by deficiency of specific enzyme or urinary excretion of GAG (glycosaminoglycan).

TAJ 2011; 24(2): 148-151

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Published

2018-11-28

How to Cite

Islam, A. T., Leema, E. A., Das, T. K., Ali, O. I., Rahman, M., & Nahar, Z. (2018). Hurler’s Syndrome - A Case Report (Mucopolysaccharidosis Type-1H). TAJ: Journal of Teachers Association, 24(2), 148–151. https://doi.org/10.3329/taj.v24i2.37546

Issue

Section

Case Reports