Fanconi-Bickel syndrome
Karande, S.; Kumbhare, N.; Kulkarni, M.
Indian Pediatrics 44(3): 223-225
2007
ISSN/ISBN: 0019-6061 PMID: 17413201 Document Number: 612658
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.