Identical male twins and brother with Cockayne syndrome

摘要: The clinical, radiological, and neuropathological findings in early onset Cockayne syndrome are illustrated identical twins their brother. Their appearance of dwarfism with small head prominent beaked nose strongly resembled that seen the Seckel syndrome, but unlike patients they had a normal birth weight (for twins), thick cranial vaults, intracranial calcification, severe degree mental retardation. were deaf blind, optic atrophy retinal pigmentation, while brother cataracts. Their hands feet large proportion to trunk. They cutaneous sensitivity any slight exposure ultraviolet light neurologic problems incoordination spasticity. Radiologic included microcephaly, vault, pelvis, coxa valga, “ivory epiphyses” terminal phalanges feet. Pathologic white matter widespread patchy demyelination, massive siderocalcific deposits brain, particularly basal ganglia cerebellum. While autosomal recessive inheritance is most likely, formally X-linked cannot be excluded.