H. Koster et J. Seidenberg, ACUTE-LIVER-DISEASE WITH DISTURBED FAT-ME TABOLISM AS FIRST UNUSUAL SYMPTOMS OF CYSTIC-FIBROSIS, Monatsschrift fur Kinderheilkunde, 145(12), 1997, pp. 1282-1285
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.