Fanconi-Bickel syndrome--two cases report.
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.
Sotelo
Norberto
N
Department of Pediatric Internal Medicine, Hospital Infantil del Estado de Sonora, México. norbertosotelo5@hotmail.com
García
Ramiro
R
Tostado
René
R
Dhanakotti
Nagasharmila
N
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
D006003:Glycogen