[An autopsy case of citrullinemia type II complicated with chronic pancreatitis]

A 34-year-old woman had developed frequent episodes of disorientation at night since a year ago. Her blood ammonia level was found to be markedly increased. Serum amino acid pattern and biochemical analysis of urea cycle enzymes in the liver indicated type II citrullinemia. Pancreatolithiasis was found by ultrasonography and CT scan. After a short remission following treatment by protein restriction and oral administration of sodium benzoate, she had disturbed consciousness due to exaggerated hyperammonemia and died of severe brain edema. In this report, efficacy of the treatment for hyperammonemia and histopathological findings are discussed.