A Case with Complete Pancreatic Aplasia Suggestive of Johanson-Blizzard Syndrome
Published: August 1, 2016 | DOI: https://doi.org/10.7860/JCDR/2016/17692.8307
Seyed Ali Jafari, Roozbeh Moghaddar, Mohammad Bahadoram,
Hamid Reza Kianifar, Mehran Beiraghi Tosi
1. Associate Professor, Department of Pediatric Gastroenterology, Mashhad University of Medical Sciences, Mashhad, Iran.
2. Resident, Department of Pediatrics Hematalogy Oncology, Health Research Institute,
Research Centre of Thalassemia and Hemoglobinopathies, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
3. Medical Student, Medical Student Research Committee, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
4. Associate Professor, Department of Pediatric Gastroenterology, Mashhad University of Medical Sciences, Mashhad, Iran.
5. Associate Professor, Department of Pediatric Gastroenterology, Mashhad University of Medical Sciences, Mashhad, Iran.
Correspondence
Dr. Mohammad Bahadoram,
Medical Student, Medical Student Research Committee, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
E-mail: mohammadbahadoram@yahoo.com”
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.
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