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[Cockayne syndrome with marked cerebral symptoms]
E M Menges-Wenzel1, O Debus, R Sträter
1Universitäts-Kinderklinik Münster, Bereich Neuropädiatrie.
Klinische Padiatrie
|June 22, 2001
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.