Cockayne Syndrome Workup

Updated: Jun 25, 2018
  • Author: Suguru Imaeda, MD; Chief Editor: William D James, MD  more...
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Workup

Laboratory Studies

In Cockayne syndrome patients, UV-irradiated cells show decreased DNA and RNA synthesis.

Laboratory studies are mainly useful to eliminate other disorders. For example, skeletal radiography, endocrinologic tests, and chromosomal breakage studies can help in excluding disorders included in the differential diagnosis.

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Imaging Studies

Brain CT scanning in Cockayne syndrome patients may reveal calcifications and cortical atrophy. [20]

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Other Tests

Prenatal evaluation is possible. Amniotic fluid cell culturing is used to demonstrate that fetal cells are deficient in RNA synthesis after UV irradiation.

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