Cockayne syndrome: the developing phenotype.
Cockayne syndrome is a rare autosomal recessive condition comprising microcephaly, "cachectic dwarfism" and progressive neurological degeneration. We present a 21-year-old woman who was not diagnosed with Cockayne syndrome type I until she was 21 years old. Family photographs demonstrated that the phenotype of Cockayne syndrome did not become evident until she was 8 years old. She had severe microcephaly, micrognathia, protruding ears, dental overcrowding with caries, progressive spastic quadriparesis, and severe developmental regression. Her head computed tomography (CT) showed bilateral calcification of the globus pallidus and global atrophy. The purpose of this clinical report is to alert clinicians to the fact that the phenotypic features of Cockayne syndrome may be very subtle early in the course of the disease.
Tan
Wen-Hann
WH
Division of Genetics, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA.
Baris
Hagit
H
Robson
Caroline D
CD
Kimonis
Virginia E
VE
D000328:Adult; D017668:Age of Onset; D003057:Cockayne Syndrome / Q000000981:diagnostic imaging / Q000473:pathology*; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D005917:Globus Pallidus / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D014057:Tomography, X-Ray Computed