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

AHM Tohurul Islam | Zendy; Elora A Leema | Zendy; Tapos K Das | Zendy; O Ibne Ali | Zendy; MH Rahman | Zendy; Zakia Nahar | Zendy

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

Author(s) -

AHM Tohurul Islam,

Elora A Leema,

Tapos K Das,

O Ibne Ali,

MH Rahman,

Zakia Nahar

Publication year - 2018

Publication title -

taj journal of teachers association

Language(s) - English

Resource type - Journals

eISSN - 2408-8854

pISSN - 1019-8555

DOI - 10.3329/taj.v24i2.37546

Subject(s) - hepatosplenomegaly , medicine , umbilical hernia , pediatrics , mucolipidosis , mucopolysaccharidosis i , disease , endocrinology , surgery , enzyme replacement therapy , hernia , biology , biochemistry , enzyme

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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