Abstract
We describe an infant with congenital pyloric atresia associated with junctional epidermolysis bullosa, which is now recognized as an autosomal recessive syndrome. Laparotomy revealed a membrane in the pyloric antrum. Clinical manifestations included intractable diarrhoea and malnutrition due to protein-losing gastroenteropathy. A satisfactory nutritional state could not be obtained during the clinical course and the child died.
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