Transient neonatal diabetes with fanconi bickel syndrome

Abstract

Fanconi-Bickel Syndrome (FBS) is a rare glycogen storage disease (GSD) characterized by hepatomegaly, proximal renal tubular acidosis (RTA), hepatorenal glucogen accumulation and marked growth retardation. Transient diabetes is rarely reported with FBS. We describe a patient with FBS diagnosed by diabetes findings and identification of a mutation in Glucose transporter-2 (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. In conclusion, neonatal diabetes may be the first presentation of infants with FBS