Lung involvement in the multisystem syndrome CHARGE association

The CHARGE association is a multisystem syndrome, with a wide range of phenotypic expression, causing mortality, especially in childhood. We performed a hospital audit, in order to quantify the pulmonary implications, in 28 boys and 19 girls aged 0.02-23 yrs, with a definite diagnosis of CHARGE. A review of the records of these children with CHARGE association revealed that aspiration was common during infancy, as a result of inco-ordination of swallowing and gastro-oesophageal reflux. Aspiration was suspected in 22 of the 47 cases (47%), recurrent chest infections occurred in 22 cases (47%), and lung involvement contributed to 7 out of 17 deaths (41%). We conclude that respiratory morbidity and mortality is common in CHARGE, and decreases with age. Early diagnosis and treatment affords the best prognosis.