Cockayne Syndrome with Extensive Intracranial Calcification Deepak Amalnath and Sharada Mailankody Neurology 2015;84;E137 DOI 10.1212/WNL.0000000000001541

RESIDENT & FELLOW SECTION Teaching NeuroImages:

Section Editor Cockayne syndrome with extensive Mitchell S.V. Elkind, MD, MS intracranial calcification

Deepak Amalnath, Figure Intracranial calcification in Cockayne syndrome MBBS, MD (medicine) Sharada Mailankody, MBBS

Correspondence to Dr. Amalnath: [email protected]

Skull X-rays show basal ganglia calcification (A, B). Brain CT shows calcification of subcortical regions (C), basal ganglia (D), and dentate nuclei (E).

A 20-year-old short-statured man presented with Common causes of basal ganglia calcification multiple hyperpigmented photosensitive lesions over include idiopathic (Fahr syndrome), (pseudo)hypo- the face and keratitis. Apart from hyperactive tendon parathyroidism, age-related, toxoplasmosis, and car- reflexes, neurologic examination had normal results. bon monoxide poisoning. CT brain and X-ray skull showed extensive intracranial calcification (figure). Other family members were AUTHOR CONTRIBUTIONS healthy. Blood calcium, phosphorus, and parathyroid Deepak Amalnath and Sharada Mailankody are responsible for the diagnosis levels were normal. and workup of the patient. Deepak Amalnath wrote the manuscript. Based on the clinical and radiologic findings, the STUDY FUNDING patient was diagnosed with Cockayne syndrome No targeted funding reported. (CS). Genetic testing could not be done. CS is an autosomal recessive disorder due to DISCLOSURE impaired DNA repair mechanisms involving the The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures. genes ERCC6 and ERCC8.1 Clinical features include growth retardation, photosensitivity, intra- REFERENCE cranial calcification, retinal degeneration, and 1. Koob M, Laugel V, Durand M, et al. Neuroimaging in Cock- deafness. ayne syndrome. AJNR Am J Neuroradiol 2010;31:1623–1630.

Download teaching slides: Neurology.org From the Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

© 2015 American Academy of Neurology e137 ª 2015 American Academy of Neurology. Unauthorized reproduction of this article is prohibited. Teaching NeuroImages: Cockayne syndrome with extensive intracranial calcification Deepak Amalnath and Sharada Mailankody Neurology 2015;84;e137 DOI 10.1212/WNL.0000000000001541

This information is current as of May 4, 2015

Updated Information & including high resolution figures, can be found at: Services http://n.neurology.org/content/84/18/e137.full

Supplementary Material Supplementary material can be found at: http://n.neurology.org/content/suppl/2015/05/02/WNL.0000000000001 541.DC1 References This article cites 1 articles, 1 of which you can access for free at: http://n.neurology.org/content/84/18/e137.full#ref-list-1 Subspecialty Collections This article, along with others on similar topics, appears in the following collection(s): CT http://n.neurology.org/cgi/collection/ct Developmental disorders http://n.neurology.org/cgi/collection/developmental_disorders Metabolic disease (inherited) http://n.neurology.org/cgi/collection/metabolic_disease_inherited Permissions & Licensing Information about reproducing this article in parts (figures,tables) or in its entirety can be found online at: http://www.neurology.org/about/about_the_journal#permissions Reprints Information about ordering reprints can be found online: http://n.neurology.org/subscribers/advertise

Neurology ® is the official journal of the American Academy of Neurology. Published continuously since 1951, it is now a weekly with 48 issues per year. Copyright © 2015 American Academy of Neurology. All rights reserved. Print ISSN: 0028-3878. Online ISSN: 1526-632X.