Cockayne's syndrome and emphysema.
A 5-year-old boy with Cockayne's syndrome is described. In addition to the recognised 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 probably that the presence of relative alpha-1-antitrypsin deficiency (1.5 g/l) in a child with PiMZ phenotype, contributed to his severe lung disease.
D000402:Airway Obstruction / Q000150:complications; D002675:Child, Preschool; D004392:Dwarfism / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D010641:Phenotype; D011656:Pulmonary Emphysema / Q000150:complications*; D013577:Syndrome; D019896:alpha 1-Antitrypsin Deficiency