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

Citation
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
Citations number
15
ISSN journal
00269298
Volume
145
Issue
12
Year of publication
1997
Pages
1282 - 1285
Database
ISI
SICI code
0026-9298(1997)145:12<1282:AWDFTA>2.0.ZU;2-D
Abstract
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.