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Neuropediatrics 1980; 11(2): 176-185
DOI: 10.1055/s-2008-1071387
Case reports

© Georg Thieme Verlag KG Stuttgart · New York

SANFILIPPO A DISEASE IN THE FETUS - COMPARISON WITH PRE- AND POSTNATAL CASES

C.  Ceuterick , J. J. Martin , J.  Libert , J. P. Farriaux
  • "Universitaire Instelling Antwerpen" and Born-Bunge Foundation (Antwerp), Department of Ophthalmology of the "Université libre de Bruxelles" (Brussels), Department of Paediatrics, "Cité hospitalière" (Lille)
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Publikationsdatum:
19. März 2008 (online)

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Abstract

One fetus at risk for Sanfilippo A disease was found to be affected by assaying heparan sulfate sulfamidase in cultured amniotic cells and, after abortion, in cultured skin fibroblasts. Morphologically, cells from placenta, visceral organs and fibroblasts contained large amounts of electron-lucent vacuoles. Limited amounts of inclusions with lamellar profiles were found in the neurons. As no similar lesions were discovered in control cases, their presence in this fetus was considered as significant, indicating an early involvement of the central nervous system.
We compared our findings with those of other pre- and postnatal proven cases of Sanfilippo disease (mucopolysaccharidosis III).

Key words

Mucopolysaccharidosis - Sanfilippo A disease - heparan sulfate sulfamidase - prenatal diagnosis - central nervous system