An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation.
Fanconi-Bickel syndrome is a rare autosomal-recessive disorder caused by defects in the facilitative glucose transporter 2 (GLUT2) gene. It is characterized by hepatorenal glycogen accumulation, tubular nephropathy and impaired utilization of glucose and galactose. In this communication, we present the case of a 5-year-old girl who presented with deforming rickets and massive hepatomegaly. Liver biopsy confirmed the diagnosis of glycogen storage disorder. However, the mutation of the SLC2A2 (GLUT2) gene was not found. Mutation negative patients with characteristic Fanconi-Bickel syndrome phenotype suggest additional underlying mechanisms that need exploration.
Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Devi
D
Dayal
Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Parag
P
Dekate
Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Sheetal
S
Sharda
Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Ashim
A
Das
Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Savita
S
Attri
Fanconi-Bickel syndrome; glycogen storage disease type XI; hypophosphatemic rickets