Open AccessA Case with Complete Pancreatic Aplasia Suggestive of Johanson- Blizzard Syndrome
Author(s) -
Seyed Ali Jafari,
Roozbeh Moghaddar,
Mohammad Bahadoram,
Hamid Reza Kianifar,
Mehran Beiraghi Tosi
Publication year - 2016
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2016/17692.8307
Subject(s) - aplasia , medicine , exocrine pancreatic insufficiency , pancreas , abdominal computed tomography , computed tomography , radiology
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.