New form of antral and duodenal ulcer in children: plasminogen deficiency

Introduction: Ligneous conjunctivitis is a rare form of chronic conjunctivitis characterized by the development of firm fibrin rich, woody-like pseudomembraneous lesions. The aetiology of this entity is now known to be due to an underlying type I plasminogen deficiency.

Case presentation: Pseudomembranes of other mucous membranes have been reported in patients with type I plasminogen deficiency, but to the best of our knowledge, no case report with gastrointestinal tract involvement has been described. Here, we describe a 5.5-year-old girl with transfusion required hematemesis due to antral and duodenal ulcer. There were ligneous conjunctivitis and congenital hydrocephalus in previous history. Multiplex gastrointestinal ulcers were diagnosed by means of upper endoscopy, and histology delighted fibrin rich, thick deposit in the subepithelial region. Plasminogen I activity was almost undetectable, moreover, the patient was shown to be homozygous for missense mutation R216H (Arg216>His, nucleotide 780 G>A in exon 7) in the plasminogen gene. Parents were heterozygous for the same mutation.

Conclusion: Plasminogen I deficiency must be considered in children with unknown cause of gastrointestinal ulcer