Infantile sialic acid storage disease and protein-losing gastroenteropathy

Pediatr Neurol. 2003 Apr;28(4):313-7. doi: 10.1016/s0887-8994(02)00629-x.


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.

Publication types

  • Case Reports

MeSH terms

  • Cardiomyopathy, Hypertrophic / diagnosis
  • Cardiomyopathy, Hypertrophic / genetics
  • Fatal Outcome
  • Follow-Up Studies
  • Gastroschisis / diagnosis*
  • Gastroschisis / genetics
  • Heredodegenerative Disorders, Nervous System / diagnosis*
  • Heredodegenerative Disorders, Nervous System / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Protein-Losing Enteropathies / diagnosis*
  • Protein-Losing Enteropathies / genetics
  • Sialic Acid Storage Disease / diagnosis*
  • Sialic Acid Storage Disease / genetics

Associated data

  • OMIM/269920