Cockayne syndrome - A Clinical, Radiological, Audiological And Chromosomal Study

Abstract

We report two brothers of Cockayne syndrome (CS) with progressive growth retardation, microcephaly, bird headed facies with sunken eyes, cutaneous photosensitivity, retinits pigmentosa, sensorineural deafness, spasticity ataxia, neuropathy and intracranial calcifiactions. These clinical with radiological features of cortical and cerebellar atrophy with basal ganglionic calcification and presence of consanguinity in parents and chromosome studies showing sister chromatid exchange in less than 6% strongly supported the diagnosis of Cockyne syndrome and differentiated it from Bloom′s syndrome and xeroderma pigmentosa. Without genetic analysis or tests for defective DNA repair, the diagnosis is mostly clinical.