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J Pediatr Genet 2013; 02(02): 109-112
DOI: 10.3233/PGE-13056
Case Report
Georg Thieme Verlag KG Stuttgart – New York

An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation

Devi Dayal
a   Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
,
Parag Dekate
a   Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
,
Sheetal Sharda
a   Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
,
Ashim Das
b   Department of Histopathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
,
Savita Attri
a   Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India
› Author Affiliations
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Publication History

19 March 2013

10 May 2013

Publication Date:
27 July 2015 (online)

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Abstract

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.

Keywords

Fanconi-Bickel syndrome - hypophosphatemic rickets - glycogen storage disease type XI