GARGOYLISM (DYSOSTOSIS MULTIPLEX): TWO ADULT CASES WITH ONE AUTOPSY

Abstract

Two adult cases (ages 28 and 29 yrs.) of gargoyl-ism are added to the more than 100 reported cases, nearly all of whom have been children, 24 of which have been autopsied cases. These two adult cases conformed in general to the usual clinical picture of dwarfism, short trunk and neck, enlarged misshapen skull, low placed ears and a face with prominent forehead, protuberant temporal bones and short nose with depressed bridge and broad base. Of unusual interest in the two cases was a marked elongation and anterior "pocketing" of the sella turcica in roentgenograms of the skull. The hands were large and presented limitation of extension of the fingers; similar limitation was also present in elbow and knee joints. There were big liver and spleen and protuberant abdomen. The usual corneal haziness was absent in the 2 cases but one presented "inner ear" deafness. One was observed over 22 yrs. and at autopsy showed the characteristic, peculiar granules in scattered cells in nearly all organs, especially abundant in the liver, also present in the endocrine glands. A biopsy of the liver of the surviving patient showed similar granules which also stained with Best''s stain for glycogen. Chemical analysis of the liver for lipids showed normal or low values in all fractions. These and other patients with gargoylism gave histories of relatives with similar appearance who had died in childhood or adolescence. The disease is regarded as a heritable and congenital condition, attributable at least in part to defects in cartilagenous development which lead to dwarfism and the characteristic skeletal deformities. The basic defect is probably concerned with dysmetabolism of glycogen or an associated macromolecular substance. Histologic, histochemical and quantitative evidence is presented that the disease does not principally involve lipids.