Journal of Pediatric Research (Mar 2018)

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

  • Havva Yazıcı,
  • Ebru Canda,
  • Esra Er,
  • Mehmet Arda Kılınç,
  • Sema Kalkan Uçar,
  • Bülent Karapınar,
  • Mahmut Çoker

DOI
https://doi.org/10.4274/jpr42275
Journal volume & issue
Vol. 5, no. 1
pp. 57 – 59

Abstract

Read online

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.

Keywords