SciELO - Scientific Electronic Library Online

vol.66 número2Marsupialización externa: técnica eficaz del hamartoma hepático gigante en niños índice de autoresíndice de materiabúsqueda de artículos
Home Pagelista alfabética de revistas  

Servicios Personalizados




Links relacionados

  • No hay artículos similaresSimilares en SciELO


Boletín médico del Hospital Infantil de México

versión impresa ISSN 1665-1146


MIRANDA-SANCHEZ, Sergio et al. Fanconi-Bickel syndrome: A case report. Bol. Med. Hosp. Infant. Mex. [online]. 2009, vol.66, n.2, pp.171-177. ISSN 1665-1146.

Introduction. Fanconi-Bickel syndrome (FBS) is characterized by hepatomegaly due to glycogen hepatic storage, renal glycogen accumulation, glycosuria, aminoaciduria and phosphaturia. It was first described in 1949 and classified as a glycogen storage disease XI. This is an autosomic recessive disorder for which 34 mutations in the gene coding for glucose and galactose transporter (GLUT2) have been reported. Case report. A 4-year and 3-month old child was admitted in the hospital with development delay, failure to thrive since 6 months of age, rachitic rosary, hepatomegaly, hypertransaminasemia, high serum alkaline phosphatase, cholesterol and triglycerides, glycosuria, aminoaciduria and phosphaturia. Metaphyseal enlargement and signs of osteopenia were seen on radiographic studies. Liver biopsy showed normal parenchyma architecture with sinusoidal congestion, diastase-sensitive intense PAS-positive reaction. Electronic microscopy showed large glycogen deposits with normal distribution. Conclusion. This is the 4th case detected in Mexico, with typical signs of FBS detected during the second year of life. The patient responded well to diet therapy. Glycogen storage in FBS is currently considered an epiphenomenon due to dysfunction in the glucose and galactose membrane transporter GLUT2. Massive hepatic glycogen storage is not a sine qua non element for the diagnosis of FBS.

Palabras llave : Fanconi-Bickel syndrome; metabolic diseases; congenital defects.

        · resumen en Español     · texto en Español     · Español ( pdf )


Creative Commons License Todo el contenido de esta revista, excepto dónde está identificado, está bajo una Licencia Creative Commons