Introduction. Galactosemia is a metabolic disease with systemic manifestations secondary to the inability to metabolize galactose, resulting in accumulation of galactose-1-phosphate in liver, kidneys and brain. Case Report. We describe the case of a 32-day old infant who presented with cholestatic jaundice, abdominal distension and deficits in hepatic synthetic function. Abdominal ultrasound showed tension ascitis without an obvious extra-hepatic cause. A metabolic work-up was performed, and alpha-1-antitrypsine, tyrosinemia, and cystic fibrosis were ruled out. The presence of reducing substances in the urine suggested the diagnosis of galactosemia. Increased concentration of galactose-1-phosphate, and deficit of galactose-1-phosphate uridyl transferase were found in red blood cells, thus confirming the diagnosis. Elimination of galactose from the diet reversed the liver da-mage and the patient recovered completely. Comments. The unique feature of this case was the presentation with tension ascitis in the absence of the more characteristic symptoms of the disease. The early elimination of galactose from the diet prevented further progression.
|Publication status||Published - 1 Sep 2007|
- Metabolic disease