Transient Neonatal Diabetes with Fanconi Bickel Syndrome

2016-06-30T02-48-21Z
Source: Medicine Science | International Medical Journal
Elif Ozsu, Cengiz Kara, Gulay Can Yilmaz, Derya Tepe, Murat Aydin.
Fanconi- Bickel Syndrome (FBS) is a rare glycogen storage disease (GSD) . Transient diabetes is rarely reported with FBS. We describe a patient with FBS diagnosed by diabetes findings and identification of a mutation in the GLUT2. A male infant, from a consanguineous marriage, presented with hyperglycemia and urinary system infections at 59 days and was given insulin therapy. At age 3 months, insulin was discontinued. Neonatal diabetes may be a first presentation of infants with FBS.


from Scope via xlomafota13 on Inoreader http://ift.tt/294LVi4
via IFTTT