392 UNUSUAL CASE OF PERMANENT NEONATAL DIABETES IN A NEWBORN ATTRIBUTABLE TO PANCREATIC AGENESIS

2005 ◽  
Vol 53 (1) ◽  
pp. S323.2-S323
Author(s):  
A. P. Ashraf ◽  
H. Abdullatif ◽  
J. M. Moates
Keyword(s):  
Unusual Case ◽  
Neonatal Diabetes ◽  
Permanent Neonatal Diabetes ◽  
Pancreatic Agenesis

scholarly journals Neonatal Diabetes due to a Mutation in the Distal PTF1A Enhancer: A Case Report and Literature Review

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Hossein Moravej ◽  
Fatemeh Sadat Mirrashidi ◽  
Alireza Haghighi ◽  
Anis Amirhakimi ◽  
Homa Ilkhanipoor
Keyword(s):  
Literature Review ◽  
Exocrine Pancreas ◽  
Clinical Manifestations ◽  
Neonatal Diabetes ◽  
Distal Enhancer ◽  
Single Nucleotide ◽  
Permanent Neonatal Diabetes ◽  
Pancreatic Agenesis ◽  
Pancreatic Imaging ◽  
Pancreas Function

: Biallelic variants in the pancreas-specific transcription factor 1A (PTF1A) gene are a rare cause of permanent neonatal diabetes. We report a case of neonatal diabetes with unique clinical manifestations. The clinical diagnosis of the affected infant was confirmed by insufficient endocrine and exocrine pancreas activity; however, the pancreas was normal in imaging. Molecular analyses identified a novel homozygous single nucleotide variant (Chr10, g.23508441T > G), affecting a highly conserved nucleotide within a distal enhancer of the PTF1A gene. The literature review showed that most of these patients had IUGR and imaging evidence of pancreatic agenesis or hypoplasia. We suggest that pancreatic imaging and evaluation of exocrine pancreas function can help early confirmation of the diagnosis in patients with permanent neonatal diabetes.

scholarly journals Amyand’s hernia in a child with permanent neonatal diabetes due to pancreatic agenesis.

2009 ◽  
Vol 1 (1) ◽  
Author(s):  
Alessandro Giannattasio ◽  
Riccardo Campus ◽  
Monica Muraca ◽  
Giorgio Lucigrai ◽  
Renata Lorini ◽  
...  
Keyword(s):  
Neonatal Diabetes ◽  
Amyand’S Hernia ◽  
Permanent Neonatal Diabetes ◽  
Pancreatic Agenesis

Permanent neonatal diabetes mellitus: Epidemiology, mode of presentation, pathogenesis and growth

1999 ◽  
Vol 66 (3) ◽  
pp. 363-373 ◽  
Author(s):  
Ashraf T. Soliman ◽  
Mahmoud M. ElZalabany ◽  
Bhasker Bappal ◽  
Issa AlSalmi ◽  
Vasantha de Silva ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Permanent Neonatal Diabetes ◽  
Permanent Neonatal Diabetes Mellitus ◽  
Mode Of Presentation

Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes

Diabetologia ◽  
2002 ◽  
Vol 45 (2) ◽  
pp. 290-290 ◽  
Author(s):  
A. L. Gloyn ◽  
S. Ellard ◽  
J. P. Shield ◽  
I. K. Temple ◽  
D. J. G. Mackay ◽  
...  
Keyword(s):  
Neonatal Diabetes ◽  
Permanent Neonatal Diabetes ◽  
Common Cause

scholarly journals Permanent Neonatal Diabetes due to Mutations in KCNJ11 Encoding Kir6.2: Patient Characteristics and Initial Response to Sulfonylurea Therapy

Diabetes ◽  
2004 ◽  
Vol 53 (10) ◽  
pp. 2713-2718 ◽  
Author(s):  
J. V. Sagen ◽  
H. Raeder ◽  
E. Hathout ◽  
N. Shehadeh ◽  
K. Gudmundsson ◽  
...  
Keyword(s):  
Neonatal Diabetes ◽  
Initial Response ◽  
Patient Characteristics ◽  
Permanent Neonatal Diabetes
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