A Case of Gargoylism

Gagroylism, congenital disorder of mucopolysaccharide metabolism, was first described by Hunter in 1917. Its main clinical features are as follows; 1) mental retardation, 2) dwarfism, 3) Gargoyle appearance, 4) hepatomegaly and splenomegaly and 5) corneal opacity.Recently, we have observed a ten-years-old boy who suffered from protuberant abdomen and retardation of growth. Clinically, a limitation in joints movement and an umbilical herniation as well as the above mentioned features except corneal opacity, were existed. On X-ray examination, an enlarged Turkish saddle, oar-shaped ribs, cocave lenz-shaped vertebral bodies, coxa valga and hypoplastic carpalia were observed.We performed tetracycline bone labelling in this case. The number of tetracycline labelled osteons per mm2 of cortical cross section (symbol; Af) was 1.0 in the eleventh rib of this case. It was less than the Af in 10 age normal subjects.