Cranial CT and MRI in diseases with DNA repair defects
Copyright policy )Cranial CT and MRI in diseases with DNA repair defects
The CT and MRI appearances of 5 patients with Cockayne's syndrome, 5 with ataxia telangiectasia and 1 with Fanconi's anaemia are reported. These conditions, together with Bloom's syndrome and xeroderma pigmentosum are regarded as disorders of DNA repair. Characteristic CT and MRI features of Cockayne's syndrome include generalised atrophy, calcification in basal ganglia and dentate nuclei and white matter low density. Neuroradiological findings in the other DNA repair disorders are nonspecific.
- Great Ormond Street Hospital Children's Charity United Kingdom
Adult, Chromosome Aberrations, Male, Adolescent, DNA Repair, Brain, Calcinosis, Chromosome Disorders, Genes, Recessive, Ataxia Telangiectasia, Fanconi Anemia, Child, Preschool, Humans, Female, Atrophy, Child, Cockayne Syndrome
Adult, Chromosome Aberrations, Male, Adolescent, DNA Repair, Brain, Calcinosis, Chromosome Disorders, Genes, Recessive, Ataxia Telangiectasia, Fanconi Anemia, Child, Preschool, Humans, Female, Atrophy, Child, Cockayne Syndrome
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