Mucopolysaccharidosis Type VII presenting with isolated neonatal ascites.
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.
Saxonhouse
Matthew Adam
MA
Department of Pediatrics, University of Florida, Gainesville 32610, USA.
Behnke
Marylou
M
Williams
Jonathan L
JL
Richards
Douglas
D
Weiss
Michael D
MD
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