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A Journal on Pediatrics, Neonatology, Adolescent Medicine,
Child and Adolescent Psychiatry

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Minerva Pediatrica 2009 October;61(5):557-60

language: English

Recurrent peptic ulcer disease in a pediatric patient with type 1 neurofibromatosis and primary ciliary dyskinesia

Lionetti E. 1, Francavilla R. 2, Ruggieri M. 1, Di Stefano V. 1, Principi M. B. 3, Pavone L. 1

1 Department of Pediatrics, University of Catania, Catania, Italy
2 Department of Biomedicina dell'Età Evolutiva, University of Bari, Bari, Italy
3 Department of Emergency and, Organ Transplantation, University of Bari, Bari, Italy


Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder with characteristic features of skin and central nervous system involvement. Gastrointestinal complications are rare, especially during childhood. In adults, only two cases of peptic ulcer have been reported in neurofibromatosis, both due to Zollinger-Ellison syndrome. Peptic ulcer disease (PUD) may be primary or secondary in nature and it may be life threatening in the acute phase due to the risk of perforation. A case of recurrent gastrointestinal hemorrhage in a child with systemic neurofibromatosis and primary ciliary dyskinesia (PCD) is presented. The upper gastrointestinal endoscopy revealed the presence of multiple gastric ulcers. The ulcers scarred after the long-term administration of a proton pump inhibitor (PPI), but recurred after the suspension. Laboratory and imaging studies excluded Zollinger-Ellison syndrome and other known causes of PUD, suggesting a potential role of neurofibromatosis itself and primary ciliary dyskinesia in developing of recurrent PUD. As early diagnosis of PUD is vital for patient survival, this case report highlights the possible association of neurofibromatosis and PCD with this condition, responsive to PPI therapy and the potential need of gastric protection before complications arise.

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