title: Fanconi-Bickel syndrome--two cases report.
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.
authors.affiliation: Department of Pediatric Internal Medicine, Hospital Infantil del Estado de Sonora, México. norbertosotelo5@hotmail.com
authors.forename: Norberto
authors.initials: N
authors.lastname: Sotelo
authors.forename: Ramiro
authors.initials: R
authors.lastname: García
authors.forename: René
authors.initials: R
authors.lastname: Tostado
authors.forename: Nagasharmila
authors.initials: N
authors.lastname: Dhanakotti
mesh_terms: D001706:Biopsy; D005260:Female; D006003:Glycogen / Q000378:metabolism; D006130:Growth Disorders / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D022781:Hepatocytes / Q000378:metabolism / Q000473:pathology; D006529:Hepatomegaly / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D007223:Infant; D008099:Liver / Q000378:metabolism / Q000473:pathology; D008297:Male; D013577:Syndrome
chemical_list: D006003:Glycogen