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兄弟에 發生한 Gargoylism 症例

Two Cases of Hurler´s Syndrome

소아과 1969년 10권 3호 p.35 ~ 42
소속 상세정보
文孝君/Moon, Hyo Koon 陰斗銀/洪基元/Ehm, Doo Uhn/Hong, Kee Won

Abstract


Two sibling cases (5 4/12 years and 1 7/12 years) of Hurler´s syndrome manifesting mental retardation, grotesque facial appearance, dwarfism and hepatosplenomegaly are presented.
The peripheral blood mear showed presence of Reillt´s bodies in the polymorphonuclear neutrophiles and positive paper spot test for acid mucopolysaccharide 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(L(_1)). Beak-like formation involving anterior aspect of the iumbar spine and shortened vertebral bodies were also noted.
The biochemical background, clinical symptoms and treatment were briefly discussed.

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