Sly Disease: Mucopolysaccharidosis Type VII.

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2008-10-25
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Abstract
A 6 month-old infant presenting with severe mitral regurgitation was found to have hepatosplenomegaly, corneal clouding, and Alder-Reilly granules in the leucocytes. Extremely low levels of beta glucuronidase confirmed the diagnosis of Sly disease (Mucopolysaccharidosis VII). This is the first case of MPS VII reported from India.
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Nampoothiri S, Kappanayil M, Hiran KR, Sunitha V. Sly Disease: Mucopolysaccharidosis Type VII. Indian Pediatrics. 2008 Oct; 45(10): 859-61