Transient Neonatal Diabetes as a Presentation of Fanconi- Bickel Syndrome
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.
Pascual JM. Glucose transport hereditary diseases. Med Clin (Barc). 2006;127(18):709-14.
G.Fanconi and H. Bickel, "die chronische aminoaciduria (amino aciduri bei der glykogense und der cystinkrankheit. Helv paediatr acta. 1949;4(5):359-96.
Santer R, Schoneppenheim R, Suter D, Schaub J, Steinmann B. Fanconi-Bickel, Syndrome- The original patient and his natural history, historical steps leading to the primary defect, and a review of the literature. Eur J Pediatr 1998;157(10):783-97.
Funkumoto H, Seino S, Imura H, Seino Y, Eddy RL, Fukushima Y, Byers MG, Shows TB, Bell GI. Tissue distributaion and chromosomal localization of mRNAencoding a human glucose transporter – like protein. Proc Nat Acad Sci 1988;85(15):5434-8.
Santer R, Steinmann B. Schaub J. Fanconi- Bickel Syndrome. A congenital defect of facilitative glucose transport. Curr Mol Med 2002;2(2):213-27.
Sotelo N, Garcia R, tostado R, Dhanakotti N. Fanconi- Bickel Syndrome- two cases report. Ann Hepatol 2008;7(2):163-7.
Santer R, Groth S, Kinner M, Dombrowski A, Berry GT, Brodehl J, Leonard JV, Moses S, Norgren S, Skovby F, Schneppenheim R, Steinmann B, Schaub J. The mutation spectrum of the facilitative glucose transporter geneSLC2A2 (GLUT2) in Patients with Fanconi- Bickel Syndrome. Hum Genet 2002;110(1):21-9.
Roy M, Bose K, Paul DK, Anand P. Hypophosphatemic rickets: presenting features of fanconi- bickel syndrome. Case Report Pathol 2011;2011:314696.
Mohandas Nair K, Sakamoto O, Jagadeesh S, Nampoothiri S. Fanconi- Bickel Syndrome. Indian J pediatr 2012;79(1):112-4
Riva S, Ghisalberti C, Parini R, Furlan F, Bettinelli A, Somaschini M. The Fanconi- Bickel Syndrome: a case ofNeonatal onset. J Perinatol 2004;24(5):322-3.
Pena L, Charrow J. Fanconi- Bickel Syndrome. Report of life history and successful pregnancy. Am J Med Genet A 2011;155A(2):415-7.
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.