Abstract
Fanconi-Bickel syndrome (FBS) is a rare inherited glycogen storage disease (GSD) caused by defects in facilitative Glucose Transporter (GLUT2) gene that codes for the glucose transporter protein 2 expressed in hepatocytes, pancreatic beta cells, enterocytes, and renal tubular cells. The clinical picture is characterized by glycogen accumulation in liver and kidney resulting in hepatomegaly and nephromegaly, impaired utilization of glucose and galactose, proximal renal tubular acidosis, hypophosphatemia rickets, and short stature. This is an autosomal recessive disorder discovered in 1949 and the pathogenic mutation of GLUT 2 gene of hepatocytes, beta cells of pancreas and renal tubules were discovered in 1997.
Highlights
An 8 month old male child, product of consanguineous marriage belonging to far flung area presented with progressive abdominal distension from 3 months
In view of rickets hepatomegaly, failure to thrive, doll like face and developmental delay, a possibility of Fanconi-Bickel disease was made and patient was extensively evaluated for the above disorder
Child is under follow-up from 3 months, his serum phosphorous and alkaline phosphatase improved patient still is lagging in development with no improvement in growth failure
Summary
An 8 month old male child, product of consanguineous marriage belonging to far flung area presented with progressive abdominal distension from 3 months. On examination weight and height was between 5th and 10th centile, patient had doll like face with hypotonic and marked rickets (wrist widening, Harrison’s sulcus, frontal bossing) [1,2]. Developmental age was 3 months, patient achieved head control and recognizes mother but not able to sit with support. There was history of 2 sib deaths in infantile age, cause of which couldn’t be ascertained and no record was available.
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