What is it?
Inherited syndrome with autosomal recessive transmission, phenotypically characterized by typical facial features (large ears and sunken eyes), growth retardation, intellectual impairment, loss of subcutaneous panniculus, retinal pigment degeneration, sensorineural deafness, dwarfism, photosensitivity, optic atrophy, peripheral neuropathy and cataract. Pathological examination reveals heterogeneous central myelin loss and white matter atrophy. Because it is an autosomal recessive disorder, both parents are healthy carriers (of the mutated gene), and with each pregnancy there is a 25% chance of having a sick child (with both genes). Cockayne syndrome can be divided into two or more different genetic subtypes, but all forms arise from a defect in the nucleotide excisional repair (NER) system. These forms are extremely sensitive to sunlight.
Which are the symptoms?
Cockayne syndrome has a wide range of symptoms and severity. Patients have skin, neurological and somatic disorders. Skin photosensitivity occurs in about three quarters of affected patients. Unlike patients with xeroderma pigmentosa, patients with Cockayne syndrome do not show a predisposition to skin neoplasms. Since most patients present with multiple symptoms of premature aging, Cockayne syndrome can also be considered one of the progeroid disorders. The median age at death described in these patients is 12 years.
How is it treated?
Treatment for Cockayne syndrome is purely symptomatic. The discovery of molecular defects in these disorders has not yet led to specific treatments.
Where do we treat it?
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