Cockayne syndrome
Dr MT Niknejad and Dr Yuranga Weerakkody et al.
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.
Pathology
Associations
Radiographic features
CT Brain
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.
MRI Brain
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
Etymology
It is named after Edward Alfred Cockayne : English physician (1880 - 1956)
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