Presentation of mucopolysaccharidosis VII (β-glucuronidase deficiency) in infancy

Abstract

A child is presented with mucopolysaccharidosis VII (β-glucuronidase deficiency), bringing to six the number of reported patients with the infantile onset form of this disorder. This patient exhibited the following features, previously unrecognized as part of this syndrome: presentation in the neonatal period, progressive joint contractures, and hydrocephalus. This child's course and data from published reports indicate that mucopolysaccharidosis VII, unlike other known mucopolysaccharidoses, is clinically recognizable in the newborn period and is most likely to be associated with moderate mental deficiency which does not progress over time.