1.
Indian Pediatr
; 44(3): 223-5, 2007 Mar.
Artículo
en Inglés
| MEDLINE
| ID: mdl-17413201
RESUMEN
We present here the first case of Fanconi-Bickel syndrome, a rare type of glycogen storage disease, from India. A 17-month-old female child presented with severe growth retardation and abdominal distention. Clinical examination revealed a "doll-like" face, massive hepatomegaly, and rickets. Laboratory investigations confirmed severe hypophosphatemic rickets and proximal renal tubular dysfunction. Liver biopsy showed glycogen accumulation in the hepatocytes.