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We read with great interest the study by Brooke and colleagues, in which they revealed that a severe hereditary form of peptic ulcer disease known as ‘cryptogenic multifocal ulcerating stenosing enteritis’ is caused by homozygosity for a truncating mutation in PLA2G4A, causing complete loss of cytosolic phospholipase A2-α (cPLA(2)α).1 We describe below a family with a different truncating mutation to further delineate the PLA2G4A-related phenotype.
The family consists of healthy first cousin parents and 8-year-old triplets, two of whom had been treated for severe peptic ulcer disease since they were 2 years of age. The initial presentation was in the form of abdominal pain, anaemia and blood in stools, and multiple gastric and duodenal ulcers were diagnosed by endoscopy at …
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