IJCRR - 5(14), July, 2013
Pages: 49-54
A CASE OF HURLER SCHEIE SYNDROME, ATTENUATED FORM OF MUCOPOLYSACCHARIDOSIS TYPE I
Author: Manali Sinharay, Mousumi Mukhopadhyay
Category: Healthcare
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Abstract:
Mucopolysaccharidosis type Ι or MPS Ι is an autosomal recessive inborn error of metabolism due to deficiency of α-L-iduronidase enzyme activity and is characterized by accumulation of incompletely degraded Glycosaminoglycans that generally lead to impairment of organ and body functions. In this report a three year old child with history of normal birth, delayed growth, noisy breathing specially during sleep and bulging abdomen noticed recently was examined and investigated thoroughly to reveal corneal clouding, coarse facial features, hepatosplenomegaly, multiple radiographic evidence of dysostosis multiplex, manifestations of mild valvular heart disease as per echocardiography, and abnormally increased excretion of Glycosaminoglycans in urine without any neurological abnormalities. The history, clinical examination and laboratory investigations confirmed the child to be suffering from attenuated form of Mucopolysaccharidosis type Ι (Hurler Scheie syndrome).
Keywords: ?-L-iduronidase, Glycosaminoglycans, Hurler Scheie syndrome.
Citation:
Manali Sinharay, Mousumi Mukhopadhyay. A CASE OF HURLER SCHEIE SYNDROME, ATTENUATED FORM OF MUCOPOLYSACCHARIDOSIS TYPE I International Journal of Current Research and Review. 5(14), July, 49-54
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