Adult diagnosis of Cockayne syndrome

A 20-year-old woman presented with bilateral upper limb tremor, mild dystonia, and dysphonia (video). She had dermal photosensitivity, crowded facial features, short stature, and mild intellectual disability. Family history was unremarkable. Brain MRI and CT scan revealed subcortical white matter abnormalities and calcifications in the cortical sulci, basal ganglia, and cerebellum (figure). Genetic testing confirmed a Cockayne syndrome B with biallelic heterozygous mutations in the ERCC6 gene (p.Gly715* in exon 10, p.Arg77*in exon 2). Cockayne syndrome should be suspected in adult patients when radiologic and clinical findings are consistent.1,2