Sly Disease: Mucopolysaccharidosis Type VII

Indian Pediatr. 2008 Oct;45(10):859-61.


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.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Humans
  • Infant
  • Mitral Valve Insufficiency / etiology
  • Monocytes / pathology
  • Mucopolysaccharidosis VII / complications
  • Mucopolysaccharidosis VII / diagnosis*