Cockayne syndrome (CS) is a rare autosomal recessive dysmyelinating disease. CS is classified among the childhood leukodystrophies, and brain imaging findings are cardinal features suggesting the diagnosis of CS. Previously published CS imaging studies have described major brain atrophy, calcifications in the basal ganglia, and a lack of myelination of the white matter, but whether these findings are due to hypomyelination or demyelination remains unclear.
Clinical features include failure to thrive, neurodevelopmental delay, cutaneous photosensitivity, pigmentary retinopathy, sensorineural hearing loss, dental caries, and cachectic dwarfism. The diagnosis is considered very likely if the first 2 clinical criteria and at least 3 of the other criteria mentioned above are present.
CS is one of the causes of basal ganglia 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: calcification may be seen as low signal in putaminal, dentate nuclear and cortical regions
The combination of demyelination and basal ganglia calcification may therefore be helpful in the imaging of this entity 3.
History and etymology
This condition is named after Edward Alfred Cockayne, English physician (1880-1956).
- 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
- 4. Koob M, Laugel V, Durand M et-al. Neuroimaging in Cockayne syndrome. AJNR Am J Neuroradiol. 2010;31 (9): 1623-30. AJNR Am J Neuroradiol (full text) - doi:10.3174/ajnr.A2135 - Pubmed citation