Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy.

Karjoo, M., Koop, C. E., Cornfeld, D., and Holtzapple, P. G. (1973). Archives ofDisease in Childhood, 48, 143. Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy. Asphyxiating thoracic dystrophy, a constrictive thoracic chondrodystrophy present at birth, is associated with tachypnoea, recurrent pulmonary infections, and failure to thrive. In our patient, a successful surgical procedure for the alleviation of the thoracic constriction resulted in improvement of ventilatory function and reduction in the frequency of respiratory infections, but did not improve the growth rate. Further investigation disclosed chronic diarrhoea, steatorrhoea, and neutropenia with impaired pancreatic zymogen secretion, suggesting the presence of a second congenital abnormality. The association of exocrine pancreatic insufficiency with asphyxiating thoracic dystrophy has not been previously described.