Cockayne syndrome

Cockayne syndrome is a rare autosomal recessive dysmyelinating disease. Cockayne syndrome is classified among the childhood leukodystrophies, and brain imaging findings are cardinal features suggesting the diagnosis of Cockayne syndrome. Previously published Cockayne syndrome 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.

Associations
CT

Cockayne syndrome 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.

MRI

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.

This condition is named after Edward Alfred Cockayne, English physician (1880-1956).

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Article Information

rID: 10270
Section: Syndromes
Tag: cases
Synonyms or Alternate Spellings:
  • Cockayne's syndrome

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