Cockayne syndrome
- 1 December 1980
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 30 (12), 1268
- https://doi.org/10.1212/wnl.30.12.1268
Abstract
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.This publication has 1 reference indexed in Scilit:
- Xeroderma PigmentosumAnnals of Internal Medicine, 1974