Fanconi-Bickel syndrome

Indian Pediatr. 2007 Mar;44(3):223-5.


We present here the first case of Fanconi-Bickel syndrome, a rare type of glycogen storage disease, from India. A 17-month-old female child presented with severe growth retardation and abdominal distention. Clinical examination revealed a "doll-like" face, massive hepatomegaly, and rickets. Laboratory investigations confirmed severe hypophosphatemic rickets and proximal renal tubular dysfunction. Liver biopsy showed glycogen accumulation in the hepatocytes.

Publication types

  • Case Reports

MeSH terms

  • Abdomen / physiopathology
  • Dietary Supplements
  • Failure to Thrive / etiology
  • Familial Hypophosphatemic Rickets / etiology
  • Fanconi Syndrome / diagnosis*
  • Female
  • Glycogen Storage Disease / diagnosis*
  • Hepatomegaly / etiology
  • Humans
  • Infant