Genetics of Cockayne Syndrome Workup
- Author: David Flannery, MD, FAAP, FACMG; Chief Editor: Maria Descartes, MD more...
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- In patients with suspected Cockayne syndrome (CS), perform routine laboratory tests to exclude other disorders and to establish baseline renal function.
- Request chromosome analysis to exclude any karyotypic abnormalities associated with growth failure.
- Request chromosome breakage studies if considering Bloom syndrome in the differential diagnosis. Patients with xeroderma pigmentosum (a differential diagnosis for Cockayne syndrome type 1 [CKN1]) and Bloom syndrome demonstrate clinical phenotypes that overlap with those found in patients with Cockayne syndrome. Chromosome breakage studies and DNA mutation analysis are necessary to exclude Bloom syndrome and xeroderma pigmentosum.
- Cultured skin fibroblasts of patients with CKN1 lack the ability to form colonies when subjected to UV irradiation. Very few laboratory personnel have expertise in this technique.
- Mutational analysis of the gene associated with Cockayne syndrome is available on a research basis only.
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- CT scan or MRI findings include increased ventricular size, cerebral atrophy, white matter abnormalities, and normal pressure hydrocephaly.
- Skeletal radiographs depict vertebral body and pelvic abnormalities.
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- Audiometry is used to determine if sensorineural hearing loss is present.
- Electroencephalography is used to assess the patient for seizure activity.
- Electroretinography reveals abnormalities in the electric potential of the retina.
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- Ocular histopathologic findings indicate degeneration of all retinal layers. Pigment migrates into the photoreceptor layer. Nerve fiber bundles of the optic nerve head become markedly thin, while partial demyelination of the remaining nerves occurs.
- For patients with sensorineural hearing loss, a significant loss of neurons occurs in the spiral ganglion and brainstem, with retrograde atrophy of the auditory pathways.
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