영아의 Williams증후군 - 1부검예보고 -
Williams Syndrome in an Infant - An autopsy case report
대한병리학회지 1999년 33권 11호 p.1090 ~ 1093
기정혜, 김세훈, 최재영, 조상호,
소속 상세정보
기정혜 ( Ki Jeong-Hae )
연세대학교 의과대학 병리학교실
김세훈 ( Kim Se-Hoon )
연세대학교 의과대학 병리학교실
최재영 ( Choi Jae-Young )
연세대학교 의과대학 소아심장과
조상호 ( Cho Sang-Ho )
연세대학교 의과대학 병리학교실
KMID : 0357919990330111090
Abstract
Williams syndrome is a congenital disorder characterized by mental retardation, loquacious personalities, dysmorphic face, and vascular and valvular abnormalities. The etiology of this syndrome was one allelic loss of elastin gene, exhibiting a submicroscopic deletion, at 7q11.23. Sudden death is an infrequently recognized complication. The mechanism of sudden death is explained by myocardial ischemia, decreased cardiac output, and arrhythmia by anatomical abnormality of coronary artery stenosis and severe biventricular outflow tract obstruction. We report an autopsy case of a 80 day-old male with Williams syndrome. Five days before admission, cardiac murmur was detected incidentally on ascultation at a local clinic during a visit for vaccination. He was transferred to our hospital and cardiac catheterization was done. He died suddenly next day. Postmortem examination revealed a dysmorphic face and multiple cardiovascular abnormalities including supravalvular aortic stenosis with narrowed coronary artery ostia, supravalvular pulmonic stenosis, secundum type of atrial septal defect, right ventricular hypertrophy, and renal artery stenosis. Histologically, aorta and pulmonary, bronchial, and renal arteries showed markedly hyperplastic medial elastic laminae approximately three times thick compared to those of age-matched normal artery. The elastic fibers of the innermost two thirds of media were disposed in a normal orderly parallel fashion. In outer third of the media, the elastic fibers had lost the normal orderly arrangement.
키워드
Williams syndrome;Elastin gene;Hyperplastic elastic lamina
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