A Case with Complete Pancreatic Aplasia Suggestive of Johanson-Blizzard Syndrome.

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.

[1]  S. Erdman,et al.  Johanson-Blizzard syndrome: expanding the phenotype of exocrine pancreatic insufficiency. , 2014, JOP : Journal of the pancreas.

[2]  F. Alkuraya,et al.  Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum , 2014, Human mutation.

[3]  J. Mayerle,et al.  Genetic basis and pancreatic biology of Johanson-Blizzard syndrome. , 2006, Endocrinology and metabolism clinics of North America.

[4]  R. Clouse,et al.  Johanson-Blizzard syndrome , 1991, Digestive Diseases and Sciences.

[5]  Zhifeng Liu,et al.  [Report of a case with Johanson-Blizzard syndrome and literatures review]. , 2011, Zhonghua er ke za zhi = Chinese journal of pediatrics.

[6]  W. Steinbach,et al.  Diabetes Mellitus and Profound Insulin Resistance in Johanson-Blizzard Syndrome , 2000, Journal of pediatric endocrinology & metabolism : JPEM.

[7]  C. hui.  World journal of gastroenterology : WJG , 1995 .