All issues > Volume 10(3); 1967

Case Report

J Korean Pediatr Soc. 1967;10(3):165-172. Published online March 31, 1967.

Two Cases of Hurler’s Syndrome

Hyo Koon Moon¹, Doo Uhn Ehm¹, Kee Won Hong¹

¹The Department of Pediatrics, Catholic Medical College

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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