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Case Reports in Pathology
Volume 2011, Article ID 314696, 3 pages
http://dx.doi.org/10.1155/2011/314696
Case Report

Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome

Department of Pediatric Medicine, Dr. B. C. Roy Postgraduate, Institute of Pediatric Sciences, West Bengal, Kolkata 700054, India

Received 9 July 2011; Accepted 16 August 2011

Academic Editors: A. Arslantas, M. M. Picken, and D. Tsuruta

Copyright © 2011 Mahua Roy et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Fanconi-Bickel Syndrome (FBS) is a rare variety of glycogen storage disease (GSD). Characterized by massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets, and marked growth retardation due to proximal renal tubular dysfunction. We report a young boy presented as hypophosphatemic rickets with hepatomegaly and subsequently diagnosed as FBS.