Sly Disease: Mucopolysaccharidosis Type VIi
Nampoothiri, S.; Kappanayil, M.; Hiran, K.R.; Sunitha, V.
Indian Pediatrics 45(10): 859-861
2008
ISSN/ISBN: 0019-6061 PMID: 18948660 Document Number: 627587
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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