RT Journal Article
SR Electronic
T1 Cockayne syndrome
JF Neurology
JO Neurology
FD Lippincott Williams & Wilkins
SP 1268
OP 1268
DO 10.1212/WNL.30.12.1268
VO 30
IS 12
A1 Kennedy, R. M.
A1 Rowe, Vernon D.
A1 Kepes, John J.
YR 1980
UL http://n.neurology.org/content/30/12/1268.abstract
AB we report a case of Cockayne syndrome with several atypical features. The patient displayed many of the typical features, including cachectic bird-headed dwarfism, photodematitis, normal pressure hydrocephalus, and extrapyramidal 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.