ACUTE-LIVER-DISEASE WITH DISTURBED FAT-ME TABOLISM AS FIRST UNUSUAL SYMPTOMS OF CYSTIC-FIBROSIS

An 11 weeks old boy was acutely ill with drowsiness, liver involvement with cholestasis and coagulopathy but normal ammonia levels. Despite repeated dicarboxylic aciduria we could not find enzymatic disorders o f fatty acid oxydation. Persistent wheezy bronchitis and steatorrhea f inally led to the diagnosis of cystic fibrosis, which was confirmed by sweat chloride test and genetic analysis. With intensive treatment of cystic fibrosis all the pathological findings vanished. Discussion: I n conclusion, Reye-like syndromes and dicarboxylic aciduria in infancy may be the first signs of cystic fibrosis.