Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone
Makaleler > Tam Makale · 2018
Yazarlar: Havva YAZICI, Ebru CANDA, Esra Er, Mehmet Arda Kilinc, Sema KALKAN UÇAR, Bülent KARAPINAR, Mahmut ÇOKER
JOURNAL OF PEDIATRIC RESEARCH, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2018, cilt 5, ss 57-59
DOI: 10.4274/jpr42275
Özet
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.