COCKAYNES SYNDROME - REPORT OF CASE WITH NECROPSY FINDINGS

The clinical and necropsy findings have been described in an 11 year old girl with classical Cockayne's syndrome which consists of microcephaly, dwarfism, bird facies, mental deficiency, retinal pigmentation, deafness, large hands and feet, and a thick skull with a small pituitary fossa. The disease, as is usual, appeared after a normal first year of life and was characterized by initial mental and physical retardation followed by progressive deterioration. The most striking neuropathological findings were marked atrophy of white matter, patchy demyelination of residual fibres in cerebrum, cerebellum, brain stem and spinal cord, fine deposition of calcium in the cerebral and cerebellar cortical ribbon and coarse focal calcification of the basal ganglia. The most likely cause of this rare condition is probably an inherited genetic defect involving several germ layers. © 1969 Springer-Verlag.