Denouement and Discussion
Manifestations usually start at age 2 to 3 years with nonpainful joint stiffness and swelling. Some coarsening of facies and shortness of stature make their appearance after age 6 years and may suggest the diagnosis of mucopolysaccharidosis. Also frequently found are minimal corneal clouding apparent early only by slitlamp examination, aortic and mitral murmurs, clawhand deformity, carpal tunnel syndrome secondary to median nerve compression, and a mild degree of mental retardation. Skeletal abnormalities consist of moderately severe dysostosis multiplex and disabling hip dysplasia by the late teens.Laboratory findings are similar to those of mucolipidosis II (I-cell disease). The urine examination for mucopolysaccharides is negative. Elevated serum levels of several acid hydrolases can be used as a screening test. Cultured fibroblasts demonstrate coarse cytoplasmic inclusions and low levels of a number of lysosomal enzymes.
Autosomal recessive inheritance is apparent, based on
Gellis SS, Feingold M, Kelly TE. Picture of the Month. Am J Dis Child. 1975;129(9):1059–1060. doi:10.1001/archpedi.1975.02120460045011
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: