title: Mucopolysaccharidosis Type VII presenting with isolated neonatal ascites.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of Florida, Gainesville 32610, USA.
authors.forename: Matthew Adam
authors.initials: MA
authors.lastname: Saxonhouse
authors.forename: Marylou
authors.initials: M
authors.lastname: Behnke
authors.forename: Jonathan L
authors.initials: JL
authors.lastname: Williams
authors.forename: Douglas
authors.initials: D
authors.lastname: Richards
authors.forename: Michael D
authors.initials: MD
authors.lastname: Weiss
mesh_terms: D001201:Ascites / Q000209:etiology*; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D016538:Mucopolysaccharidosis VII / Q000150:complications* / Q000175:diagnosis; D013997:Time Factors