Cockayne syndrome: characteristic neuroimaging features

A 6-year-old boy was brought by his parents with history of global developmental delay and progressive difficulty in walking. He had microcephaly, prominent low-set ears and deep-set eyes. Examination also revealed dental caries, decreased visual acuity (6/60) with salt and pepper retinopathy bilaterally. Neuro-developmental assessment revealed a developmental age equivalent of 14 months and bilateral spasticity of lower limbs resulting in a scissoring gait. He also had bilateral sensorineural deafness which was confirmed by brainstem auditory-evoked responses. Noncontrast computed tomography (CT) of the brain showed bilateral symmetric chunky calcification in the basal ganglia and diffuse cortical calcification in the frontal and parietal cortex in the depth of the sulci (Fig. 1). Subsequent magnetic resonance imaging (MRI) of the brain showed diffuse cerebellar and subcortical volume loss with brain stem atrophy (Fig. 2). Diffuse white matter volume loss was associated with signal changes in the form of T2 hyperintensity in the deep white matter bilaterally sparing the subcortical U fibers and in the external capsule (Fig. 3). There was no abnormal enhancement on postcontrast images. These findings had significantly progressed compared to the child’s previous MRIs done when he was 1 and 2 years of age.