Open AccessHurler’s Syndrome - A Case Report (Mucopolysaccharidosis Type-1H)
Author(s) -
Ahm Tohurul Islam,
Elora A Leema,
Tapos K Das,
O Ibne Ali,
Mizanur Rahman,
Zakia Nahar
Publication year - 2018
Publication title -
taj
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