Cockayne syndrome

Cockayne syndrome (CS) is a rare autosomal recessive dysmyelinating disease. CS is classified among the childhood leukodystrophies,and, and brain imaging findings are cardinal features suggesting the diagnosis diagnosis of CS. Previously published CS imaging studies have described described major brain atrophy, calcifications in the basal ganglia, and a lack of myelination of the white matter, but whether these these findings are due to hypomyelination or demyelination remains remains unclear.

Clinical presentation

Clinical features include failure to thrive, neurodevelopmental delay, cutaneous photosensitivity, pigmentary retinopathy, neurosensorysensorineural hearing loss, dental caries, and cachectic dwarfism. The diagnosis is considered very likely likely if the first 2 clinical criteria and at least 3 of the other criteria criteria mentioned above are present.

Pathology

Associations

• xeroderma pigmentosum

Radiographic features

CT

CS is one of the causes of basal ganglialganglia 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 supratentorialwhite matter, the cerebellum, the corpus callosum, and the brainstem ¹.

• T2: calcficationcalcification may be seen as low signal in putaminal, dentate nuclear and corticialcortical regions 

The combination 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).