A NEW ACID MUCOPOLYSACCHARIDOSIS WITH SKELETAL DEFORMITIES SIMULATING RHEUMATOID ARTHRITIS

Abstract

Two siblings are described with biochemical evidence of mucopolysaccharide storage presumably inherited as an autosomal recessive. [See figure in the PDF file] The syndrome is characterized by a progressive grotesque deformity due to intra-articular destruction. There are coarsened facial features anti peripheral corneal opacification. Mucopolysaccharide is not excreted in abnormal amounts, and mental retardation is not present. The differentiation from rheumatoid arthritis and recognized mucopolysaccharide storage diseases is discussed.