Patton M A, Giannelli F, Francis A J, Baraitser M, Harding B, Williams A J
St George's Hospital Medical School, London.
J Med Genet. 1989 Mar;26(3):154-9. doi: 10.1136/jmg.26.3.154.
Two patients with early onset Cockayne's syndrome are presented. In each case there was a striking failure of growth and developmental deterioration around six months of age. It has been suggested that early onset Cockayne's syndrome is a syndrome distinct from Cockayne's syndrome, but when the first patient died aged two years 10 months, examination of the brain showed a leucodystrohy with 'tigroid' demyelination similar to that reported in later onset cases of Cockayne's syndrome. Studies of the effects of UV irradiation on cultured fibroblasts from patients showed similar levels of inhibition of RNA synthesis to those seen in a control with Cockayne's syndrome. This evidence suggests it is appropriate to classify early onset Cockayne's syndrome with Cockayne's syndrome. Since there is a phenotypic overlap between early onset Cockayne's syndrome and COFS syndrome, they may both be classified within the same diagnostic group, but as yet no cellular studies with UV irradiation have been performed in COFS syndrome.
本文报告了两名早发型科凯恩综合征患者。在每个病例中，患者均在6个月大左右出现显著的生长发育迟缓。有人提出，早发型科凯恩综合征是一种与科凯恩综合征不同的综合征，但当第一名患者在2岁10个月时死亡，对其脑部检查发现了一种白质营养不良，伴有“虎斑样”脱髓鞘，这与晚发型科凯恩综合征中报道的情况相似。对患者培养的成纤维细胞进行紫外线照射影响的研究表明，RNA合成的抑制水平与科凯恩综合征对照组相似。这一证据表明，将早发型科凯恩综合征归类于科凯恩综合征是合适的。由于早发型科凯恩综合征和COFS综合征之间存在表型重叠，它们可能都属于同一诊断组，但目前尚未对COFS综合征进行紫外线照射的细胞研究。
