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
Video 1
The patient has a typical narrow face with prominent nose and sunken eyes. There is bilateral intention limb tremor with mirror movements and mild dystonic posturing.Download Supplementary Video 1 via http://dx.doi.org/10.1212/008449_Video_1
Axial T2-weighted MRI (A–C) shows white matter abnormalities and brain calcifications. Axial CT scan (D–F) demonstrates calcifications in the cortical sulci, basal ganglia, and cerebellum.
Author contributions
A. Cocco: prepared the manuscript, images, and video. D. Calandrella: prepared the manuscript. M. Carecchio: critically revised the manuscript. B. Garavaglia: performed genetic analysis. A. Albanese: critically revised the manuscript and the video.
Study funding
No targeted funding reported.
Disclosure
The authors report no disclosures relevant to the manuscript. Go to Neurology.org/N for full disclosures.
Footnotes
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
- © 2019 American Academy of Neurology
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