A new mutation of Fanconi–Bickel syndrome with liver failure and pseudotumour cerebri

. 2012). The disease was firstdescribed by G. Fanconi and Horst Bickel (Fanconi andBickel 1949). The affected child typically presents in the1st year of life with failure to thrive, rickets, a protuberantabdomen due to hepatomegaly secondary to glucose accumu-lation and nephromegaly, glucose and galactose intolerance,fasting hypoglycemia, and characteristic tubular nephropathy(Yoo