Cockayne Syndrome

Cockayne syndrome, a rare autosomal recessive disorder, is caused by mutations in either the CSA or CSB gene. The disease manifests with dwarfism; microcephaly; facial dysmorphism with prognathism, malformed large ears, enophthalmos, and beaked nose; long extremities; and sensitivity to sunlight. Neurologic abnormalities are mental retardation, sensorineuronal hearing impairment, optic atrophy and pigmentary retinal degeneration, myoclonus, and pyramidal and extrapyramidal symptoms and signs.

Grossly, the brain is small, and the cerebral and cerebellar white matter is reduced. The histology is characterized by: (a) calcium deposits in the cerebral cortex, hemispheric white matter, basal ganglia, and cerebellum; (b) neuronal losses in the cerebral and cere-bellar cortex; (c) an abnormal dendritic configuration of cortical neurons and Purkinje cells and the presence of binucleated neurons; (d) multifocal myelin losses in the cerebrum and cerebellum; and (e) bizarrely shaped binu-cleated astrocytes.

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