RESIDENT & FELLOW SECTION Section Editor Mitchell S.V. Elkind, MD, MS
Deepak Amalnath, MBBS, MD (medicine) Sharada Mailankody, MBBS
Teaching NeuroImages: Cockayne syndrome with extensive intracranial calcification Figure
Intracranial calcification in Cockayne syndrome
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 multiple hyperpigmented photosensitive lesions over the face and keratitis. Apart from hyperactive tendon reflexes, neurologic examination had normal results. CT brain and X-ray skull showed extensive intracranial calcification (figure). Other family members were healthy. Blood calcium, phosphorus, and parathyroid levels were normal. Based on the clinical and radiologic findings, the patient was diagnosed with Cockayne syndrome (CS). Genetic testing could not be done. CS is an autosomal recessive disorder due to impaired DNA repair mechanisms involving the genes ERCC6 and ERCC8.1 Clinical features include growth retardation, photosensitivity, intracranial calcification, retinal degeneration, and deafness.
Common causes of basal ganglia calcification include idiopathic (Fahr syndrome), (pseudo)hypoparathyroidism, age-related, toxoplasmosis, and carbon monoxide poisoning. AUTHOR CONTRIBUTIONS Deepak Amalnath and Sharada Mailankody are responsible for the diagnosis and workup of the patient. Deepak Amalnath wrote the manuscript.
STUDY FUNDING No targeted funding reported.
DISCLOSURE The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.
REFERENCE 1. Koob M, Laugel V, Durand M, et al. Neuroimaging in Cockayne 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 & Services
including high resolution figures, can be found at: http://www.neurology.org/content/84/18/e137.full.html
Supplementary Material
Supplementary material can be found at: http://www.neurology.org/content/suppl/2015/05/02/WNL.000000000 0001541.DC1.html
References
This article cites 1 articles, 1 of which you can access for free at: http://www.neurology.org/content/84/18/e137.full.html##ref-list-1
Subspecialty Collections
This article, along with others on similar topics, appears in the following collection(s): CT http://www.neurology.org//cgi/collection/ct Developmental disorders http://www.neurology.org//cgi/collection/developmental_disorders Metabolic disease (inherited) http://www.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/misc/about.xhtml#permissions
Reprints
Information about ordering reprints can be found online: http://www.neurology.org/misc/addir.xhtml#reprintsus
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.
Deepak Amalnath, MBBS, MD (medicine) Sharada Mailankody, MBBS
Teaching NeuroImages: Cockayne syndrome with extensive intracranial calcification Figure
Intracranial calcification in Cockayne syndrome
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 multiple hyperpigmented photosensitive lesions over the face and keratitis. Apart from hyperactive tendon reflexes, neurologic examination had normal results. CT brain and X-ray skull showed extensive intracranial calcification (figure). Other family members were healthy. Blood calcium, phosphorus, and parathyroid levels were normal. Based on the clinical and radiologic findings, the patient was diagnosed with Cockayne syndrome (CS). Genetic testing could not be done. CS is an autosomal recessive disorder due to impaired DNA repair mechanisms involving the genes ERCC6 and ERCC8.1 Clinical features include growth retardation, photosensitivity, intracranial calcification, retinal degeneration, and deafness.
Common causes of basal ganglia calcification include idiopathic (Fahr syndrome), (pseudo)hypoparathyroidism, age-related, toxoplasmosis, and carbon monoxide poisoning. AUTHOR CONTRIBUTIONS Deepak Amalnath and Sharada Mailankody are responsible for the diagnosis and workup of the patient. Deepak Amalnath wrote the manuscript.
STUDY FUNDING No targeted funding reported.
DISCLOSURE The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.
REFERENCE 1. Koob M, Laugel V, Durand M, et al. Neuroimaging in Cockayne 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 & Services
including high resolution figures, can be found at: http://www.neurology.org/content/84/18/e137.full.html
Supplementary Material
Supplementary material can be found at: http://www.neurology.org/content/suppl/2015/05/02/WNL.000000000 0001541.DC1.html
References
This article cites 1 articles, 1 of which you can access for free at: http://www.neurology.org/content/84/18/e137.full.html##ref-list-1
Subspecialty Collections
This article, along with others on similar topics, appears in the following collection(s): CT http://www.neurology.org//cgi/collection/ct Developmental disorders http://www.neurology.org//cgi/collection/developmental_disorders Metabolic disease (inherited) http://www.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/misc/about.xhtml#permissions
Reprints
Information about ordering reprints can be found online: http://www.neurology.org/misc/addir.xhtml#reprintsus
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.
