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 β-glucuronidase confirmed the diagnosis of Sly disease (Mucopolysaccharidosis VII). This is the first case of MPS VII reported from India.
cited By (since 1996)2
Sad Nampoothiri, Mahesh, Kb, Hiran, K. Rc, and Sunitha, Va, “Sly disease: Mucopolysaccharidosis type VII”, Indian Pediatrics, vol. 45, pp. 859-861, 2008.