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Also called as Neill - Dingwall syndrome is a rare autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight, eye disorders, and premature aging. Failure to thrive and neurological disorders are criteria for diagnosis, while photosensitivity, hearing loss, eye abnormalities, and cavities are other very common features. Problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies, which are conditions characterized by degradation of neurological white matter. The underlying disorder is a defect in a DNA repair mechanism. Cockayne syndrome is a rare but destructive disease usually resulting in death within the first or second decade of life. The mutation of specific genes in Cockayne syndrome is known, but the widespread effects and its relationship with DNA repair are yet to be well understood. Persons with the syndrome have smaller than normal head sizes, are of short stature, their eyes appear sunken, and they have an aged look. They often have long limbs with joint contractures, a hunched back, and they may be very thin.
HOW IS COCKAYNE SYNDROME DIAGNOSED?
Diagnosis of Cockayne Syndrome is done through physical examination and consideration of family and patient history. Neurologists may order for a specific DNA repair test for measuring the recovery of RNA after exposure to UV radiation. Neurological imaging studies are conducted to study the changes in the brain.
HOW IS COCKAYNE SYNDROME TREATED?
There is no permanent cure for this syndrome, although patients can be treated according to their specific symptoms. Treatment usually involves physical therapy and minor surgeries to the affected organs, like cataract removal. Also, wearing high-factor sunscreen and protective clothing is recommended as patients with Cockayne syndrome are very sensitive to UV radiation. Optimal nutrition can also help. Genetic counselling for the parents is recommended.
DID YOU KNOW?
Prognosis of Cockayne Syndrome is poor and it usually results in death of the individual in his twenties.