Dunger D B, Dicks-Mireaux C, O'Driscoll P, Lake B, Ersser R, Shaw D G, Grant D B
Hospital for Sick Children, London, UK.
Eur J Pediatr. 1987 Nov;146(6):615-9. doi: 10.1007/BF02467370.
We present our findings in two unrelated patients with the characteristic clinical and radiological features of the Winchester syndrome. The histological findings in gum and skin biopsies taken from one of the subjects, indicated excessive collagen turnover (active phagocytosis, an active endoplasmic reticulum, and an abundance of fibrillogranular material of probable collagen origin). An abnormal oligosaccharide was detected in urine from both patients which was identified as a trisaccharide containing one fucose and two galactose residues. The finding of this oligosaccharide may prove a useful marker in other cases of this rare syndrome and may help elucidate the underlying biochemical defect.
我们报告了两名无关患者的研究结果，他们具有温彻斯特综合征的典型临床和放射学特征。从其中一名受试者的牙龈和皮肤活检组织学结果显示，胶原转换过度（活跃的吞噬作用、活跃的内质网以及大量可能源自胶原的纤维颗粒物质）。在两名患者的尿液中均检测到一种异常寡糖，经鉴定为含有一个岩藻糖和两个半乳糖残基的三糖。这种寡糖的发现可能在这种罕见综合征的其他病例中被证明是一种有用的标志物，并可能有助于阐明潜在的生化缺陷。
