The Pathology and Biochemistry of Gargoylism: A Report of Three Cases with a Review of the Literature

A number of studies have been reported on the fate of radiocalcium (Ca-45) in humans (1-12), but none have included chemical analyses of the concentration of Ca-45 in the skeleton and in such tissues as liver, brain, or intestinal tract. We are now reporting the results of a metabolic study with Ca-45 performed on a 10 year old patient with terminal gargoylism. The analyses, of periodic samples of serum, urine, cerebrospinal fluid, and feces obtained during the patient's illness and of various tissues removed at necropsy 16 days after the administration of Ca-45 have made it possible to formulate a relatively complete picture of the calcium metabolism of this individual, although the lack of comparable information makes it difficult to evaluate whether and how gargoylism modified the calcium metabolism of our patient.Gargoylism is now well recognized clinically (13), but its pathogenesis is largely unknown. Evidence is accumulating (14)(15)(16)(17)(18)(19) that calcification is also defective in this condition.Dawson (17) has reviewed the histological changes seen in the bones of patients with gargoylism and has concluded that the changes are dystrophic and are probably of direct metabolic origin. However, no metabolic studies have been reported. It seemed of interest, therefore, to study in detail the calcium metabolism of a patient with terminal gargoylism. MATERIAL AND METHODSDescription of patient. The patient was a male child, 9 years 10 months old, 137 cm. high, who weighed 16.4 Kg. He had been institutionalized since the diagnosis of the disease almost five years earlier. When the study was initiated, the disease had progressed to a point where the boy's life expectancy appeared short. The patient was almost completely unaware of his surroundings, had lost his ability to communicate except by a bird-like whine, and showed no response to sounds. He appeared incapable of any muscular control, was incontinent of urine and feces, and had to be handled like a 3 months old baby. His arms and legs were flexed, with ankylosis of the joints. The hands were clenched, the fingers showed clubbing, and the skin was taut and shiny. There was general hirsutism.Design. Although the patient was on the danger list, his condition had remained unchanged for several weeks preceding the study. It was planned to follow the course of the injected Ca-45 intensively during the first five days, then at weekly, and later at monthly intervals. The death of the patient on Day 16 prevented an extended follow-up.Dietary regimen. Before the initiation of the study and throughout its duration, the patient was spoon-fed with commercial baby foods, baby cereals, and milk. No attempt was made to regulate his intake. During the course of the study, i.e., on days when specimen collection was carried out, food equivalent to that fed to the patient was collected by having the nursing personnel place in a collection jar quantities of food identical to those fed the patient. His calcium intake was analyzed as 3

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

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confidence: 99%

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

Bronner¹,

Benda²,

Harris³

et al. 1958

J. Clin. Invest.

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“…It is also noteworthy that Henderson, Macgregor, Thannhauser and Holden (1952) seem to have recorded a similar change in the series of gargoylism reviewed by them. They write:…”

Section: Discussionmentioning

confidence: 59%

Epiloia and Endocardial Fibro-elastosis

Crome¹

1954

Archives of Disease in Childhood

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“…In one case the infiltrate in cartilage stained with Best's carmine stain and in another case positive staining of liver and cartilage biopsies was obtained by the Feulgen-Bauer method. Henderson, Macgregor, Thannhauser, and Holden (1952), however, failed to stain the abnormal deposit in liver biopsy material from two cases of gargoylism.…”

Section: Discussionmentioning

confidence: 93%

“…The widespread lesions of gargoylism are listed by Henderson et al (1952), and their excellent review of the literature shows that there is much variation in the distribution and severity of the lesions, although the brain, liver, and spleen are invariably affected. In our case the striking differences in involvement of the spleen, tonsil, and lymph node exemplify the capricious and inexplicable distribution of the infiltrate.…”

Section: Discussionmentioning

confidence: 99%

The Pathology and Chemistry of a Case of Gargoylism

Bishton¹,

Norman²,

Tingey³

1956

Journal of Clinical Pathology

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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.

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The Pathology and Biochemistry of Gargoylism: A Report of Three Cases with a Review of the Literature

Cited by 63 publications

References 17 publications

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

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

Epiloia and Endocardial Fibro-elastosis

The Pathology and Chemistry of a Case of Gargoylism

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