DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20210666

Cockayne syndrome, xeroderma pigmentosa: a rare case report

Latha Gowdru Shamanuru, Veeresh Babu Doddamane Veeranna, Preeti .

Abstract


Cockayne syndrome is a rare autosomal recessive disorder characterized by premature ageing (progeria), facial anomalies, cachectic dwarfism, mental retardation, cutaneous photosensitivity, and retinopathy, loss of adipose tissue and muscle, and neurological abnormality which are associated with the changes in the brain parenchyma. The findings of computed tomography scan and especially magnetic resonance imaging of the brain support the clinical diagnosis of CS. There is no permanent cure of this condition and death usually occurs in the second or third decade due to functional disability and multiple infections.


Keywords


Brain, Cockayne syndrome, Magnetic resonance imaging, Progeria

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References


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