Mucopolysaccharidosis Type VII presenting with isolated neonatal ascites

J Perinatol. 2003 Jan;23(1):73-5. doi: 10.1038/


Mucopolysaccharidosis Type VII (MPS VII) is a lysosomal storage disease caused by a deficiency of the enzyme, beta-glucuronidase. MPS VII has a wide variation in phenotypic expression, including presentation in the neonatal period with nonimmune hydrops fetalis. We report a neonate with MPS VII who initially presented with marked isolated ascites not associated with hydrops fetalis. This appears to be a novel finding in patients with MPS VII.

Publication types

  • Case Reports

MeSH terms

  • Ascites / etiology*
  • Follow-Up Studies
  • Humans
  • Infant, Newborn
  • Male
  • Mucopolysaccharidosis VII / complications*
  • Mucopolysaccharidosis VII / diagnosis
  • Time Factors