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Cockayne syndrome (Neill-Dingwall syndrome) is a rare autosomal recessive multi-system disease caused by a molecular defect that interferes with DNA repair. The annual incidence in European countries is close to 1 / 200,000
Cockayne's syndromecauses the patient's cells to show a specific defect in genes involved in removing UV-induced DNA changes in actively transcribed genes. In the case of extra-cutaneous symptoms of the syndrome, additional defects in basic transcription or oxidative repair were also taken into account.
Disease symptoms and types
There are 3 types of Cockayne syndrome:
- Type I (classic)- initially no deviations from the norm are noticed, sometimes there may be microcephaly, the child may gain weight poorly. Gradually, sight and hearing deteriorate, and the nervous system degenerates, both central and peripheral, which is the cause of premature mortality (first - second decade of life)
- Type II (CSD)- the most severe, leads to death in the first decade of life. It is characterized by impaired neurological development. Fat tissue and brain atrophy, cataracts and osteoporosis develop. COFS syndrome is an extreme, prenatal form of the clinical spectrum of Cockayne syndrome characterized by congenital minima and arthrogryposis (polyarticular contractures).
- Type III- the mildest, symptoms similar to type I, but less severe. It allows you to reach adulthood, sometimes even 4-5 decades.
The severity of symptoms and the age of onset of the disease vary depending on the site of the mutation. In classic Cockayne syndrome type 1, the first symptoms most often appear in the first year of life. Early onset (prenatal age) cases with more severe symptoms (type II) and later onset cases with milder symptoms (type III) have also been reported.
The most common symptoms of the disease include:
- progressive growth inhibition
- cerebellar ataxia
- spasticity (generalized and excessive muscle contractions that prevent normal movements)
- intellectual disability
- sensorineural demyelinating peripheral neuropathy
- losshearing
- pigmentary retinopathy
- tooth defects (presence of caries)
Typical facial features include microcephaly, large ears, a narrow nose and enophthalmia (the eyeball collapses in the eye socket when the content of the eye socket is reduced).
Cataracts and photosensitivity have been observed in some patients, as well as retinitis pigmentosa, which can lead to blindness.
Disturbances in bite and kidney function, lack or delay in sexual maturation were also observed.
The risk of new mutations and cancer is increasing.
There is a loss of subcutaneous fat that can give the appearance of premature aging of the skin.
Recognition
Disease type A is caused by a mutation in the ERCC8 gene on chromosome 5q11. Type B causes a mutation in the ERCC6 gene at locus 10q11.23.
Can be identified using a radioactive assay in fibroblast cultures to measure the repair of DNA synthesis after UV radiation. The DNA repair test is a tool that determines the diagnosis of the syndrome.
Prenatal diagnosis
Possible prenatal diagnosis by testing in amniocytes or chorionic villi (in the same way as postnatal) or directly by molecular sequencing where there is a family history of a mutation causing the disease.
Treatment
There is no causal treatment. Treatment is only symptomatic and includes physical therapy, sun protection, hearing aids, and often tube feeding or gastrostomy.