Cockayne syndrome: an atypical case.
We report a case of Cockayne syndrome with several atypical features. The patient displayed many of the typical features, including cachectic bird-headed dwarfism, photodermatitis, normal pressure hydrocephalus, and extraphyramidal and pyramidal tract signs. However, she also displayed the unusual and previously unreported features of late age at onset, relative stability until age 19, and fertility, with a successful pregnancy. Brain biopsy showed hypomyelination, no active demyelination, and fibrillary gliosis.
D000328:Adult; D001706:Biopsy; D003057:Cockayne Syndrome / Q000473:pathology*; D004392:Dwarfism / Q000473:pathology*; D005260:Female; D005625:Frontal Lobe / Q000473:pathology*; D006801:Humans