Journal of the Korean Pediatric Society 1971;14(4):241-244.
Published online April 30, 1971.
A Case of Gargoylism
Je Ik Choi, Jung Tak Lee
Department of Pediatrics, College of Medicine, Pusan National University
Gargoylism 의 1症例
崔濟端, 李正譯
益山大學校 醫科大學 小兒科學敎室
Abstract
A case of gargoylism manifesting grotesque facial appearance, mental and growth retardation, and hepatosplenomegaly is presented. Reilly’s bodies in the polymorphonuclear neutrophiles were not demonstrated in peripheral blood but paper spot test for acid mucopolysaccharide excretion in the urine was positive. Roentgenographic examinations revealed elongation of the antero-posterior diameter and flattening of the Sella turcica in skull, and mild dorsolumbar kyphosis with the inferior beak like appearance of the lower dorsal and upper lumbar vertebral bodies. The upper extremities were shortened, widened diaphyses with the irregularities of the metaphyses and the stunted deformities of the phalanges and metacarpalx. Brief review of literatures was made.




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