Sly Disease: Mucopolysaccharidosis Type VII |
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| Authors: | Nampoothiri Sheela Kappanayil Mahesh Hiran K R Sunitha V |
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| Affiliation: | Department of Pediatric Genetics,Pediatric Cardiology, and Pathology, Amrita Institute of Medical Sciences and Research Center, Elamakkara PO, Cochin 682 026,Kerala, India. sheelaknpn@yahoo.co.in |
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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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