Cockayne's syndrome: case report.
The clinical features in a new non-familial case of Cockayne's syndrome comprised the usual components: dwarfism with microcephaly, severe mental subnormality, progeria-like appearance of the face, pigmented retinopathy, and severe perceptive deafness. The patient also suffered from grand mal epilepsy and died in status epilepticus at the age of 22 years. The neuropathological findings were severe microencephaly, widespread calcifying vasopathy with some secondary degenerative changes in the contiguous tissue, and granular ependymitis.
D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D001307:Auditory Perception; D001921:Brain / Q000473:pathology; D002114:Calcinosis / Q000150:complications; D002531:Cerebellum / Q000473:pathology; D002561:Cerebrovascular Disorders / Q000150:complications / Q000473:pathology; D002906:Chromosomes, Human, 6-12 and X; D003638:Deafness / Q000150:complications; D003711:Demyelinating Diseases / Q000150:complications / Q000473:pathology; D004392:Dwarfism / Q000150:complications / Q000235:genetics; D004805:Ependyma / Q000473:pathology; D004830:Epilepsy, Tonic-Clonic / Q000150:complications; D005132:Eye Manifestations; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008831:Microcephaly / Q000150:complications; D011371:Progeria / Q000150:complications; D012160:Retina / Q000503:physiopathology; D014314:Trisomy