title: A Case with Complete Pancreatic Aplasia Suggestive of Johanson-Blizzard Syndrome.
abstract: Johanson-Blizzard Syndrome (JBS) is a very rare autosomal recessive multisystem disorder. We report the case of a two-month-old male with pancreatic insufficiency and severe phenotypic features. His diagnosis of JBS was established using clinical symptoms and abdominal computed tomography scan that showed pancreas aplasia. According to the best of our knowledge, no case with this syndrome has presented with complete pancreatic aplasia in the literature.
authors.affiliation: Associate Professor, Department of Pediatric Gastroenterology, Mashhad University of Medical Sciences , Mashhad, Iran .
authors.forename: Seyed Ali
authors.initials: SA
authors.lastname: Jafari
authors.affiliation: Resident, Department of Pediatrics Hematalogy Oncology, Health Research Institute, Research Centre of Thalassemia and Hemoglobinopathies, Ahvaz Jundishapur University of Medical Sciences , Ahvaz, Iran .
authors.forename: Roozbeh
authors.initials: R
authors.lastname: Moghaddar
authors.affiliation: Medical Student, Medical Student Research Committee, Ahvaz Jundishapur University of Medical Sciences , Ahvaz, Iran .
authors.forename: Mohammad
authors.initials: M
authors.lastname: Bahadoram
authors.affiliation: Associate Professor, Department of Pediatric Gastroenterology, Mashhad University of Medical Sciences , Mashhad, Iran .
authors.forename: Hamid Reza
authors.initials: HR
authors.lastname: Kianifar
authors.affiliation: Associate Professor, Department of Pediatric Gastroenterology, Mashhad University of Medical Sciences , Mashhad, Iran .
authors.forename: Mehran Beiraghi
authors.initials: MB
authors.lastname: Tosi
keywords: Cyclophpsphamide; Hemorrhagic cystitis; Treatment