Abstract
Fanconi-Bickel syndrome (FBS) is a rare type of glycogen storage disease (GSD). Usual presentations of this condition are hepatomegaly, nephropathy, postprandial hyperglycemia, fasting hypoglycemia, developmental delay and growth retardation. An investigation shows rachitic changes with calcinuria, phosphaturia, glycosuria, and metabolic acidosis. Liver biopsy shows features of GSD and whole exome sequencing shows solute carrier family 2, facilitated glucose transporter member 1 gene mutation which encodes glucose transporter (GLUT2). In this study, we present the case of a child who had presented with abdominal distention and rachitic changes and finally diagnosed as FBS. This case report aims to show that hepatomegaly with rachitic features may reveal a rare diagnosis of FBS.
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