Fanconi-Bickel syndrome.
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2007-03-07
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Abstract
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.
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Karande S, Kumbhare N, Kulkarni M. Fanconi-Bickel syndrome. Indian Pediatrics. 2007 Mar; 44(3): 223-5