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Special Feature
November 2000

Pathological Case of the Month

Author Affiliations
 

ENIDGILBERT-BARNESSMD

Arch Pediatr Adolesc Med. 2000;154(11):1165. doi:

Figure 1. The patient is unable to stand up because of pain. She is short for her age, and there is bowing in her legs.

Figure 2. Radiographs of the patient's extremities show osteoporosis and severe rickets.

Figure 3. Results of liver needle aspiration biopsy show glycogen accumulation (hematoxylin-eosin, original magnification ×200).

Fanconi-Bickel syndrome is a rare type of glycogen storage disease first described by Fanconi and Bickel in 1949.1 It is an autosomal recessive disease for which an enzymatic defect has not yet been identified. The disease is characterized by the association of a large liver with massive glycogen accumulation and severe renal tubular dysfunction.2 Renal Fanconi syndrome, characterized by urinary loss of phosphate, amino acids, glucose, and bicarbonate, results in severe hypophosphatemic rickets and markedly stunted growth.3

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