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?
People with this condition have smaller heads and also have dwarfism, small structure. Their eyes look sunken and they look aged. People with this syndrome usually have hyperpigmented skin. There is a widespread absence of myelin sheaths in the neurons of their brains. There is no specific cure for this condition although there can be specific medications given to improve the various symptoms that people may observe. The lifespan of the affected people does not go beyond their twenties.
HOW IS COCKAYNE SYNDROME TREATED?
There is no permanent cure for this neurological disorder although patients can be treated according to their specific symptoms. The prognosis for those with Cockayne syndrome is poor, as death typically occurs by the individual's twenties. 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 counseling for the parents is recommended, as the disorder has a 25% chance of being passed to any future children, and prenatal testing is also a possibility.
DID YOU KNOW?
This fatal condition causes death of the patient within ten to twenty years.