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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

Mucopolysaccharidosis Type VII Presenting With Isolated Neonatal Ascites

Journal of Perinatology volume 23, pages 73–75 (2003)Cite this article

Abstract

Mucopolysaccharidosis Type VII (MPS VII) is a lysosomal storage disease caused by a deficiency of the enzyme, β-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.

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Acknowledgements

We would like to thank W.B. Cumming (Department of Radiology) for his assistance with reviewing the plain films and magnetic resonance images, C.A. Williams (Division of Genetics) for his assistance with the diagnosis and outpatient management of the patient, and the Biomedical Resource Services at the University of Florida Health Science Center for preparing the photograph.

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Authors and Affiliations

  1. Department of Pediatrics, University of Florida, Gainesville, FL, USA

    Matthew Adam Saxonhouse MD, Marylou Behnke MD & Michael D Weiss MD

  2. Department of Radiology, University of Florida, Gainesville, FL, USA

    Jonathan L Williams MD

  3. Department of Obstetrics and Gynecology, University of Florida, Gainesville, FL, USA

    Douglas Richards MD

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  1. Matthew Adam Saxonhouse MD
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  2. Marylou Behnke MD
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  3. Jonathan L Williams MD
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Saxonhouse, M., Behnke, M., Williams, J. et al. Mucopolysaccharidosis Type VII Presenting With Isolated Neonatal Ascites. J Perinatol 23, 73–75 (2003). https://doi.org/10.1038/sj.jp.7210844

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