MRI in the diagnosis of Cockayne's syndrome. One case.

Computerized tomography (CT) and magnetic resonance imaging (RMI) showed cortico-subcortical atrophy as well as calcification of the basal ganglia and the cerebellar dentate nuclei in a patient presenting with cerebellar syndrome. RMI was particularly useful in imaging the demyelination of the periventricular white matter and the subcortical U fibres. A diagnosis of Cockayne's syndrome was made. This is an extremely rare hereditary disease of unknown pathogenesis. Defective recovery of DNA synthesis has been suggested.