Waldstein G, Hagerman R
Department of Pathology, Children's Hospital, Denver, CO 80218.
Am J Med Genet. 1988 May-Jun;30(1-2):83-98. doi: 10.1002/ajmg.1320300107.
An 18-year-old mentally retarded male with the Martin-Bell syndrome was fragile X positive. He died suddenly with viral pneumonia and myocarditis. At autopsy, generalized tubular hypoplasia of the aorta and a mild coarctation were discovered. The base of the mitral and tricuspid valves showed striking aberrations in elastin distribution and structure by light microscopy. Local collagen alterations were also noted. Comparable changes were seen in the skin elastin as well as a severe depletion of acid mucopolysaccharides. These changes suggest a structural disruption underlying the clinical connective tissue problems in some patients with the fragile X syndrome.
一名患有马丁-贝尔综合征的18岁智障男性，脆性X检测呈阳性。他因病毒性肺炎和心肌炎突然死亡。尸检发现主动脉普遍存在肾小管发育不全以及轻度缩窄。二尖瓣和三尖瓣基部在光学显微镜下显示出弹性蛋白分布和结构的显著异常。还注意到局部胶原改变。在皮肤弹性蛋白中也观察到类似变化以及酸性粘多糖的严重减少。这些变化表明在一些脆性X综合征患者中，临床结缔组织问题存在潜在的结构破坏。
