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Cockayne syndrome

An atypical case

From the Department of Neurology (Drs. Kennedy and Rowe), University of Kansas Medical Center, and the Department of Pathology and Oncology (Dr. Kepes), University of Kansas Medical Center, Kansas City, KS.

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.

Address correspondence and reprint requests to Dr. Rowe, Department of Neurology, University of Kansas Medical Center, 39th at Rainbow, Kansas City, KS 66103.

Accepted for publication February 21, 1980.

Dr. Rowe is a Basil O'Connor Awardee from the March of Dimes Birth Defects Foundation and is the recipient of Teacher Investigator Award No. NS 00439.

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