Morquio-B syndrome (MPS-IV B) associated with beta-galactosidase deficiency in two siblings

Indian J Pediatr. 2002 Jan;69(1):109-11. doi: 10.1007/BF02723790.

Abstract

In the present article we describe two cases with Morquio-B syndrome characterized by beta-galactosidase deficiency in a Muslim family. They were found to have skeletal dysplasia, short stature and short trunk dwarfism with undetectable level of beta-galactosidase in leucocytes. Probands' sister who had no clinical signs of mucopolysaccharidosis was investigated and found to have normal levels of the enzyme. Mother was found to have a deficient activity of beta-galactosidase and father was not available for the study. Since mother was pregnant, prenatal study from chorionic cells was carried out to investigate beta-galactosidase activity in the chorionic villus. An intermediate level of beta-galactosidase activity was found in the chorionic villus cells suggesting a carrier status. The diversity and rarity of the study makes it worth presenting.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Humans
  • Male
  • Mucopolysaccharidoses / genetics*
  • Syndrome
  • beta-Galactosidase / deficiency
  • beta-Galactosidase / genetics*

Substances

  • beta-Galactosidase