Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone

Creative Commons License

Yazici H., Canda E., Er E., Kilinc M. A. , Ucar S. K. , Karapinar B. , ...Daha Fazla

JOURNAL OF PEDIATRIC RESEARCH, cilt.5, ss.57-59, 2018 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 5 Konu: 1
  • Basım Tarihi: 2018
  • Doi Numarası: 10.4274/jpr42275
  • Sayfa Sayıları: ss.57-59


Hereditary tyrosinemia Type I (HTI) is an autosomal recessive disorder due to a deficiency of the enzyme fumarylacetoacetate hydrolase. The liver is the primary organ that is affected and comorbidities with renal and neurologic systems and hepatocellular carcinoma can be seen as a long-term complication. An effective treatment has been available with 2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione (NTBC) since 1992. Neurogenic crises do not take place in HTI patients who are treated with NTBC. Here, we report on a seven-year-old boy who underwent a severe neurological crisis including anorexia, vomiting, weakness, hyponatremia, paresthesia and paralysis of the extremities, seizure and arterial hypertension after an interruption of NTBC treatment. With the re-introduction of NTBC, the patient gradually reacquired normal neurological functions, normal blood pressure and recovered completely.