Hypophosphatemic rickets: presenting features of fanconi-bickel syndrome.

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.

SUBMITTER: Roy M 

PROVIDER: S-EPMC3420661 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature