Hypophosphatemic Rickets: Presenting Features of Fanconi—Bickel Syndrome

oleh: Mahua Roy, K. Bose, D. K. Paul, Puja Anand

Format: Article
Diterbitkan: Hindawi Limited 2011-01-01

Deskripsi

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.