Transient Neonatal Diabetes as a Presentation of Fanconi- Bickel Syndrome

• Main Authors: Aria Setoodeh, Ali Rabbani
• Format: Article
• Language: English
• Published: Tehran University of Medical Sciences 2012-12-01
• Series: Acta Medica Iranica
• Subjects: Fanconi Bickel syndrome; Hypophosphatemic rickets; Neonatal diabetes; Severe short stature
• Online Access: https://acta.tums.ac.ir/index.php/acta/article/view/4004
• ISSN: 0044-6025; 1735-9694

Fanconi- Bickel Syndrome (FBS) is a rare type of glycogen storage disease (GSD) Characterized by hepatomegaly, proximal renal tubular acidosis (RTA) and marked growth retardation. We report a case of FBS presenting with diabetic ketoacidosis and transient neonatal diabetes. A female infant, product of consanguineous marriage presented with diabetic ketoacidosis at age 33 days, and was treated as neonatal diabetes with insulin. At age 14 months, insulin was discontinued. She presented with short stature, hepatomegaly, RTA and hypophosphatemic rickets at age 4 and (FBS) was diagnosed. Diagnosis was confirmed by mutation analysis, showing mutation in SLC2 A2 gene. In conclusion,: neonatal diabetes or diabetic ketoacidosis may be the first presentation of infants with FBS.