Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I.
In a male patient with hereditary tyrosinaemia type I (HTI), NTBC [2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclohexandion] treatment and a diet low in phenylalanine and tyrosine were started at the age of 4 wk. At the recommended average dosage (1 mg kg(-1)), liver failure improved transiently. After 4 mo of treatment, with increased body weight, the dose had decreased to 0.7 mg kg(-1), and diffuse cirrhotic changes in liver parenchyma and multiple nodules were visualized by ultrasonography. Multiple nodules in the liver parenchyma were differentiated from hepatocellular carcinoma by magnetic resonance imaging (MRI) using mangafodipir trisodium as a paramagnetic liver-specific contrast agent. Augmentation of NTBC dosage resulted in a decrease in serum alpha-fetoprotein levels and in significant regression of liver nodules on MRI.


CONCLUSIONS
In HTI patients with a poor response to NTBC treatment and/or development of cirrhotic changes of liver parenchyma, augmentation of the recommended NTBC dosage may result in significant improvement of symptoms.
Crone
J
J
Department of Paediatrics, University of Vienna, Austria.
Möslinger
D
D
Bodamer
O A
OA
Schima
W
W
Huber
W D
WD
Holme
E
E
Stöckler Ipsiroglu
S
S
D003512:Cyclohexanones / Q000627:therapeutic use*; D004791:Enzyme Inhibitors / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008103:Liver Cirrhosis / Q000188:drug therapy* / Q000209:etiology* / Q000473:pathology; D008115:Liver Regeneration / Q000187:drug effects*; D008297:Male; D009579:Nitrobenzoates / Q000627:therapeutic use*; D012074:Remission Induction; D020176:Tyrosinemias / Q000150:complications* / Q000188:drug therapy* / Q000473:pathology
D003512:Cyclohexanones; D004791:Enzyme Inhibitors; D009579:Nitrobenzoates; C077073:nitisinone