[Cockayne syndrome with marked cerebral symptoms]

Klin Padiatr. 2001 May-Jun;213(3):134-8. doi: 10.1055/s-2001-15864.
[Article in German]

Abstract

The course of Cockayne syndrome is reported in two sisters over a period of 14 years. Both girls developed characteristic clinical signs early. Reaching the second decade progeria and psychomotor deficits progressed quickly with a marked mental decline brought about by the cerebral destruction which is demonstrated by successive CT und MRI scan. The effects of defective DNA repair mechanisms on progeria and mental deterioration are discussed and differential diagnoses are shown.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adolescent
  • Brain / pathology
  • Child
  • Child, Preschool
  • Cockayne Syndrome / diagnosis
  • Cockayne Syndrome / genetics*
  • DNA Repair / genetics
  • Follow-Up Studies
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Myelin Sheath / pathology
  • Neurologic Examination*
  • Tomography, X-Ray Computed