Cockayne's syndrome and emphysema

Abstract

A 5-year-old boy with Cockayne's syndrome is described. In addition to the recognized clinical features, he presented with severe fixed airways obstruction, and investigations confirmed clinical and physiological emphysema. In a disorder associated with many of the features of aging, it is probable that the presence of relative α-1-antitrypsin deficiency (1.5 g/l) in a child with Pi(MZ) phenotype, contributed to his severe lung disease.