A Case with Complete Pancreatic Aplasia Suggestive of Johanson-Blizzard Syndrome SD01-SD03
Dr. Mohammad Bahadoram,
Medical Student, Medical Student Research Committee, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
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.