Hurler’s Syndrome - A Case Report (Mucopolysaccharidosis Type-1H)
DOI:
https://doi.org/10.3329/taj.v24i2.37546Abstract
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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