Pediatric Neurology
Volume 28, Issue 4 , Pages 313-317, April 2003

Infantile sialic acid storage disease and protein-losing gastroenteropathy

  • Lieselotte Kirchner, MD

      Affiliations

    • University Hospital of Pediatrics, Vienna, Austria
    • ,
  • Susanne Kircher, MD

      Affiliations

    • University of Vienna, Institute of Medical Chemistry, Vienna, Austria
    • ,
  • Ulrike Salzer-Muhar, MD

      Affiliations

    • University Hospital of Pediatrics, Vienna, Austria
    • ,
  • Eduard Paschke, MD

      Affiliations

    • University Hospital of Pediatrics, Graz, Austria
    • ,
  • Robert Birnbacher, MD

      Affiliations

    • University Hospital of Pediatrics, Vienna, Austria
    • ,
  • Sylvia Stöckler-Ipsiroglu, MD

      Affiliations

    • University Hospital of Pediatrics, Vienna, Austria
    • Corresponding Author InformationCommunications should be addressed to: Dr. Stöckler-Ipsiroglu; Department of General Paediatrics; University Hospital of Paediatrics, Vienna; Währinger Gürtel 18-20; 1090, Vienna, Austria.

Received 21 March 2002; accepted 18 October 2002.

Abstract 

We report on a boy who presented at birth with gastroschisis and thereafter developed the characteristic clinical symptoms of infantile sialic acid storage disease within the first two months of life. Measurements of free sialic acid excretion (tenfold increase) in the urine and a 15-fold elevation of free sialic acid in cultured fibroblasts proved the diagnosis. The clinical course was complicated by hypertrophic cardiomyopathy, recurrent infections, hypothyroidism, and intestinal protein losses, which had never been described before in an infantile sialic acid storage disease patient. The child died at the age of 10 months. Clinical and laboratory findings are discussed and compared with other cases described in the literature.

Keywords:  Infantile sialic acid storage disease, gastroschisis, protein-losing gastroenteropathy

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PII: S0887-8994(02)00629-X

doi:10.1016/S0887-8994(02)00629-X

Pediatric Neurology
Volume 28, Issue 4 , Pages 313-317, April 2003

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