Fanconi - Bickel syndrome - Two cases report

Norberto Sotelo*, Ramiro García, René Tostado, Nagasharmila Dhanakotti

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

A one year eight month old male child and his nine month old female sibling were presented with Growth retardation, abdominal distension, doll-like faces, hepatomegaly, phosphaturia, proximal renal tubular dysfunction. The elder sibling also presented with glucosuria, hyperglycemia, hypoinsulinemia. The younger one later presented with galactosemia. Biopsy of liver on these two patients revealed the accumulation of glycogen in hepatocytes.

Original languageEnglish
Pages (from-to)163-167
Number of pages5
JournalAnnals of Hepatology
Volume7
Issue number2
StatePublished - Apr 2008
Externally publishedYes

Keywords

  • Fanconi- Bickel syndrome
  • Glucosuria
  • Glycogenosis
  • Phosphaturia

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