Journal of the Korean Pediatric Society 1967;10(3):165-172.
Published online March 31, 1967.
Two Cases of Hurler’s Syndrome
Hyo Koon Moon, Doo Uhn Ehm, Kee Won Hong
The Department of Pediatrics, Catholic Medical College
兄第에 發生한 Gargoylism 症例
文孝君, 陰斗銀, 洪基元
가톨릭醫大 小兒科學敎室
Abstract
Two sibling cases (5 4/12 years and 3 7/12 years) of Hurler’s syndrome manifesting mental retardation, grotesque facial appearance, dwarfism and hepatosplenomegaly are presented. The peripheral blood smear showed presence of Reilly’s bodies in the polymorphonuclear neutrophiles and positive paper spot test for acid mucopolysaccharid excretion in the urine. Roentgenographic examination of the chest revealed broad lower ribs. The metacarpal bones were bottle-shaped and phalanges were broad. The lateral spine films showed kyphosis at the dorsolumbar region (Li). Beak-like formation involving anterior aspect of the lumbar spine and shortened vertebral bodies were also noted. The biochemical background, clinical symptmes and treatment were briefly discussed.




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