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November 05, 2019; 93 (19) Video NeuroImages

Adult diagnosis of Cockayne syndrome

View ORCID ProfileAntoniangela Cocco, View ORCID ProfileDaniela Calandrella, View ORCID ProfileMiryam Carecchio, View ORCID ProfileBarbara Garavaglia, View ORCID ProfileAlberto Albanese
First published November 4, 2019, DOI: https://doi.org/10.1212/WNL.0000000000008449
Antoniangela Cocco
From the Department of Neurology (A.C., D.C., A.A.), IRCCS Humanitas Research Hospital and University, Rozzano, Milan; Department of Neuroscience (M.C.), University of Padua; Medical Genetics and Neurogenetics Unit (B.G.), IRCCS Carlo Besta Neurological Institute; and Department of Neurology (A.A.), Catholic University, Milan, Italy.
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  • ORCID record for Antoniangela Cocco
Daniela Calandrella
From the Department of Neurology (A.C., D.C., A.A.), IRCCS Humanitas Research Hospital and University, Rozzano, Milan; Department of Neuroscience (M.C.), University of Padua; Medical Genetics and Neurogenetics Unit (B.G.), IRCCS Carlo Besta Neurological Institute; and Department of Neurology (A.A.), Catholic University, Milan, Italy.
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Miryam Carecchio
From the Department of Neurology (A.C., D.C., A.A.), IRCCS Humanitas Research Hospital and University, Rozzano, Milan; Department of Neuroscience (M.C.), University of Padua; Medical Genetics and Neurogenetics Unit (B.G.), IRCCS Carlo Besta Neurological Institute; and Department of Neurology (A.A.), Catholic University, Milan, Italy.
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Barbara Garavaglia
From the Department of Neurology (A.C., D.C., A.A.), IRCCS Humanitas Research Hospital and University, Rozzano, Milan; Department of Neuroscience (M.C.), University of Padua; Medical Genetics and Neurogenetics Unit (B.G.), IRCCS Carlo Besta Neurological Institute; and Department of Neurology (A.A.), Catholic University, Milan, Italy.
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Alberto Albanese
From the Department of Neurology (A.C., D.C., A.A.), IRCCS Humanitas Research Hospital and University, Rozzano, Milan; Department of Neuroscience (M.C.), University of Padua; Medical Genetics and Neurogenetics Unit (B.G.), IRCCS Carlo Besta Neurological Institute; and Department of Neurology (A.A.), Catholic University, Milan, Italy.
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Citation
Adult diagnosis of Cockayne syndrome
Antoniangela Cocco, Daniela Calandrella, Miryam Carecchio, Barbara Garavaglia, Alberto Albanese
Neurology Nov 2019, 93 (19) 854-855; DOI: 10.1212/WNL.0000000000008449

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This article has a correction. Please see:

  • Adult diagnosis of Cockayne syndrome - October 27, 2020
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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

Figure
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Figure Axial T2-weighted MRI and axial CT scan

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

References

  1. 1.↵
    1. Wilson BT,
    2. Stark Z,
    3. Sutton RE, et al
    . The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care. Genet Med 2016;18:483–493.
    OpenUrlCrossRef
  2. 2.↵
    1. Koob M,
    2. Laugel V,
    3. Durand M, et al
    . Neuroimaging in Cockayne syndrome. AJNR Am J Neuroradiol 2010;31:1623–1630.
    OpenUrlAbstract/FREE Full Text

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