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Title: Mucopolysaccharidosis Type II with Inguinal Hernia
Authors: Rayamajhi, A
Pokharel, P J
Chapagain, R
Rayamajhi, A K
Citation: RayamajhiA., PokharelP. J., ChapagainR., & RayamajhiA. K. (2014). Mucopolysaccharidosis Type II with Inguinal Hernia. Journal of Nepal Health Research Council.
Issue Date: 2013
Publisher: Nepal Health Research Council
Keywords: Glycosaminoglycans
Hunter syndrome
Iduronate-2-sulfatase deficiency
Inguinal hernia
Series/Report no.: Sep-Dec, 2013;408
Abstract: Abstract Mucopolysaccharidosis Type II (Hunter syndrome) is a rare X-linked recessive storage disorder caused by deficiency of lysosomal enzyme iduronate-2-sulfatase, causing excess accumulation of glycosaminoglycans in the lysosomes resulting in cellular damage, organ failure and death. Severe subtype develops characteristic clinical features and cognitive impairment early and die in second decade of life. In a resource poor setting, we report a case of Hunter syndrome, severe subtype, based on global development delay, coarse facies, short stature, hepatosplenomegaly and dysostosis multiplex on X-ray with unusual large congenital inguinal hernia. The diagnosis was important because of risk of recurrence of hernia after repair. Keywords: glycosaminoglycans; Hunter syndrome; iduronate-2-sulfatase deficiency; inguinal hernia; mucopolysaccharidosis.
Description: Case Report
ISSN: Print ISSN: 1727-5482; Online ISSN: 1999-6217
Appears in Collections:Vol. 11 No. 3 Issue 25 Sep - Dec, 2013

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