The Cockayne syndrome (CS) is a rare autosomal recessive dysmyelinating disease.
It is clinically characterised by short stature, retinal atrophy, deafness, physical and mental retardation and premature ageing.
It is one of the causes of basal ganglial calcifications in a child. Calcification may also occur in cerebellar and cerebral cortical regions. CT may also show early atrophy.
There is atrophy which predominantly involves the supratentorial white matter, the cerebellum, the corpus callosum, and the brain stem 1.
- T2 : calcfication may be seen as low signal in putaminal, dentate nuclear and corticial regions
The combination of demyelination and basal ganglia calcification may therefore be helpful in the imaging of this entity.3
It is named after Edward Alfred Cockayne : English physician (1880 - 1956)
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- 1. Koob M, Laugel V, Durand M et-al. Neuroimaging In Cockayne Syndrome. American Journal of Neuroradiology. 2010;: ajnr.A2135v2. doi:10.3174/ajnr.A2135 - Pubmed citation
- 2. Dähnert W. Radiology review manual. Lippincott Williams & Wilkins. (2007) ISBN:0781738954. Read it at Google Books - Find it at Amazon
- 3. Haaga JR, Boll D. CT and MRI of the whole body. Mosby. (2009) ISBN:0323053750. Read it at Google Books - Find it at Amazon
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