MUCOPOLYSACCHARIDOSIS IN A THREE MONTHS OLD INFANT Clinical and Ultrastructural Studies |
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| Authors: | M. TONDEUR E. VAMOS-HURWITZ N. CREMER H. LOEB |
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| Affiliation: | Departments of Paediatrics, Paediatric Radiology and Pathology and Electron Microscopy, University of Brussels, Belgium |
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| Abstract: | A mucopolysaccharidosis is diagnosed in an infant aged 3 months. Clinical and X-ray data are not typical, while biological studies reveal an increased mucopolysacchariduria affecting both heparan and dermatan sulfate. Study of lysosomal hydrolases in the liver discloses a normal activity of β-galactosidase. Hepatic ultrastructure shows, in both parenchymal and Kupffer cells, the presence of clear inclusions analoguous to those found in typical mucopolysaccharidoses, although more numerous and generally smaller. |
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| Keywords: | Mucopolysaccharidosis infants heparan sulfate dermatan sulfate ultrastructure |
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