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Morquio-B syndrome (MPS-IV B) associated with beta-galactosidase deficiency in two siblings.
Indian J Pediatr ; 2002 Jan; 69(1): 109-11
Artículo en Inglés | IMSEAR | ID: sea-82094
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.
Asunto(s)
Texto completo: Disponible Índice: IMSEAR (Asia Sudoriental) Asunto principal: Síndrome / Humanos / Masculino / Niño / Preescolar / Beta-Galactosidasa / Mucopolisacaridosis Idioma: Inglés Revista: Indian J Pediatr Año: 2002 Tipo del documento: Artículo

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Texto completo: Disponible Índice: IMSEAR (Asia Sudoriental) Asunto principal: Síndrome / Humanos / Masculino / Niño / Preescolar / Beta-Galactosidasa / Mucopolisacaridosis Idioma: Inglés Revista: Indian J Pediatr Año: 2002 Tipo del documento: Artículo