Early onset Cockayne's syndrome: case reports with neuropathological and fibroblast studies.

摘要: 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 age. It has been suggested that is distinct from syndrome, but when the first patient died aged two years 10 months, examination brain showed leucodystrohy 'tigroid' demyelination similar to reported in later cases syndrome. Studies effects UV irradiation on cultured fibroblasts levels inhibition RNA synthesis those seen control This evidence suggests it appropriate classify Since phenotypic overlap between COFS they may both be classified within same diagnostic group, as yet no cellular studies have performed