The Pathology and Chemistry of a Case of Gargoylism

Abstract

The clinical features of gargoylism are well known, but there are great gaps in our knowledge of its chemistry and pathogenesis. The condition is familial, and because of the widespread lesions in which there is an abnormal deposit it is generally thought to be a metabolic disorder. Case History A girl was diagnosed as a classical case of gargoylism when a large umbilical hernia was repaired at the age of 2 years. She had suffered from a nasal discharge since birth and the nasal bridge was obviously depressed. On reaching school age she was seen by a psychiatrist and found to be mentally retarded. At this time it was noted that there was clouding of the cornea, a typical gargoyle facies, an enlarged liver, and a lumbar kyphosis. At the age of 6 years a " cold" did not clear up and was followed three weeks later by increasing dyspnoea with periods of cyanosis. On admission to hospital she was placed in an oxygen tent and given penicillin but died within a few hours from the lung infection. Radiographs taken during life showed many of the stigmata of gargoylism, including the characteristic hook-shaped body of the first lumbar vertebra. She was the first child of healthy young parents with no consanguinity, and a younger sister, aged 2 years, is apparently normal and healthy. Necropsy FindingsThe post-mortem examination was made five hours after death. The body was that of a young female child showing a depressed bridge of the nose, prominent supra-orbital ridges, enlarged lobes of the ears, and a protruding tongue (Fig. 1).The hands were short and broad. The abdomen was moderately enlarged and there was an old transverse umbilical scar.The serous cavities x-ere healthy. The heart (150 g.) showed no abnormalities except for slight thickening of the edges of the mitral and tricuspid valve cusps. The coronary arteries did not look thickened. The aorta and main blood vessels were normal. The tongue was uniformly enlarged and its surface normal. The teeth were small and overspaced with a hyperplastic gingivitis. Both tonsils were enlarged but not inflamed. The larynx and trachea were normal. There was an acute bronchitis and bronchiolitis with mucopurulent exudate. The lungs (left 125 g., right 150 g.) showed large patches of collapse but no actual bronchopneumonic consolidation. The spleen (125 g.) was slightly enlarged, rather pale and soft. The liver was grossly enlarged (1,090 g.) and its cut surface had a parboiled appearance. The mesenteric lymph nodes were swollen and fleshy, but no abnormal markings were seen on bisection. The gall-bladder, bile-ducts, and pancreas appeared to be normal and there were no visible lesions in krjG. 1.-Xine cissica lacie1soi arg,yijsas. on 12 May 2018 by guest. Protected by copyright.

Calcium Metabolism in a Case of Gargoylism, Studied With the Aid of Radiocalcium1

“…Conceivably, the inability to deposit calcium, as indicated by the accretion value, is related to the accumulation of abnormal polysaccharide materials similar to those reportedly found in liver and spleen (16,(18)(19)(20). Chondroitin-like materials have recently been reported to occur in bone (40).…”

“…Evidence is accumulating (14)(15)(16)(17)(18)(19) that calcification is also defective in this condition.…”

Chemical studies in gargoylism.

“…Previous infrared studies revealed this fraction to be identical with chondroitin sulphate B. Although the presence of a small amount of heparitin sulphate cannot be excluded (Bishton et al, 1956), the amount of this component was too low to allow isolation by alcohol precipitation before the infrared analysis Clausen et al, 1963). Our results thus seem in agreement with those of Brante (1952).…”

Inborn Errors of Metabolism

“…Abnormal amounts of acid mucopolysaccharides in tissues of patients with gargoylism (H urler's disease) have been reported (86,87,88). Chondroi tin sulfate B and heparitin sulfate were recently identified (89,90,91).…”