Cockayne's Syndrome and Emphysema

Overview

Journal Arch Dis Child

Specialty Pediatrics

Date 1978 Sep 1

PMID 309750

Citations 1

Authors

M Cunningham

S Godfrey

W M Moffat

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

The neuropathy of Cockayne syndrome.

Vos A, Gabreels-Festen A, Joosten E, Gabreels F, Renier W, Mullaart R Acta Neuropathol. 1983; 61(2):153-6.

PMID: 6314729 DOI: 10.1007/BF00697396.

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