Tyrosinemia Type I and Reversible Neurogenic Crisis After a One-Month Interruption of Nitisinone
Küçük Resim Yok
Tarih
2018
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
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Erişim Hakkı
info:eu-repo/semantics/openAccess
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
Açıklama
Anahtar Kelimeler
Pediatri
Kaynak
The Journal of Pediatric Research
WoS Q Değeri
Scopus Q Değeri
Cilt
5
Sayı
1 özel
