September 1975

Picture of the Month

Author Affiliations

From the Johns Hopkins Hospital, Baltimore.

Am J Dis Child. 1975;129(9):1059-1060. doi:10.1001/archpedi.1975.02120460045011

Denouement and Discussion 

Mucolipidosis III 

(Pseudo-Hurler Polydystrophy) 

Manifestations  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.

Genetics  Autosomal recessive inheritance is apparent, based on

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