Fanconi-Bickel Syndrome: Report of a Case

Fanconi-Bickel syndrome (SFB) is a rare glycogenosis characterized by glycogen accumulation in the liver and kidneys, severe proximal renal tubulopathy, and abnormal glucose and galactose metabolism.

Case presentation: We report the case of a 5-year-old girl from a non-consanguineous marriage, who presented for growth failure and abdominal distention that progressed gradually from birth. The clinical examination showed a "doll-like" face, a size at -4DS, signs of rickets and hepatomegaly. Biological assessment showed hypoglycemia, hypophosphoremia, normal calcium rate, elevated PAL rate, normal transaminases and TP, hypercholesterolemia and hypertriglyceridemia, metabolic acidosis. In urine analysis we found glycosuria, ketonuria, amino aciduria and phosphaturia. X-rays showed diffuse osteopenia with a typical appearance of rickets. Liver biopsy showed glycogen accumulation in the hepatocytes. The treatment consisted of phosphorus and vitamin D supplementation with low galactose diet and split meals.

Conclusion: This report describes the clinical history of an affected child and highlights the importance of continued follow-up in order to extend our understanding of the history of this rare metabolic disorder.